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- [1] Alcohol-Induced Sudden Cardiac Death in a Teenager With PPA2 Gene MutationsAMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY, 2023, 44 (04): : 332 - 335Graham, Sydney论文数: 0 引用数: 0 h-index: 0机构: Arkansas Coll Osteopath Med, Ft Smith, AR USA Arkansas Coll Osteopath Med, Ft Smith, AR USAPeterson, Diane C.论文数: 0 引用数: 0 h-index: 0机构: Johnson Cty Med Examiners Off, 11894 S Sunset Dr, Olathe, KS 66061 USA Arkansas Coll Osteopath Med, Ft Smith, AR USAJames, Christine论文数: 0 引用数: 0 h-index: 0机构: Johnson Cty Med Examiners Off, 11894 S Sunset Dr, Olathe, KS 66061 USA Arkansas Coll Osteopath Med, Ft Smith, AR USA
- [2] Sudden unexpected death in asymptomatic infants due to PPA2 variantsMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (01):Phoon, Colin K. L.论文数: 0 引用数: 0 h-index: 0机构: NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USA NYU, Dept Pediat, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USAHalvorsen, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, Med Ctr, New York, NY USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USARabin, Rachel论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Pediat, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USACecchin, Frank论文数: 0 引用数: 0 h-index: 0机构: NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USA NYU, Dept Pediat, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USACrandall, Laura论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Neurol, Sch Med, New York, NY 10016 USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USADevinsky, Orrin论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Neurol, Sch Med, New York, NY 10016 USA NYU, Div Pediat Cardiol, Sch Med, Hassenfeld Childrens Hosp,NYU Langone, New York, NY 10016 USA
- [3] Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (03) : 674 - 682Kennedy, Hannah论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Univ Otago, Dept Pathol, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandHartill, Verity论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMatakovic, Lavinija论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandBaumgartner, E. Regula论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Basel UKBB, Metab Unit, CH-4056 Basel, Switzerland Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandPotter, Howard论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMackay, Richard论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandAlston, Charlotte L.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandO'Sullivan, Siobhan论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Dept Metab Paediat, Belfast BT12 6BA, Antrim, North Ireland Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMcFarland, Robert论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandConnolly, Grainne论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Dept Clin Biochem, Belfast BT12 6BA, Antrim, North Ireland Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandGannon, Caroline论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Hosp, Dept Pathol, Belfast BT12 6BA, Antrim, North Ireland Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandKing, Richard论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMead, Scott论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Prince Wales Hosp, SEALS Genet Lab, Sydney, NSW 2031, Australia Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandCrozier, Ian论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Canterbury Dist Hlth Board, Dept Cardiol, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandChan, Wandy论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Canterbury Dist Hlth Board, Dept Cardiol, Christchurch 8140, New Zealand Univ Queensland, Sch Med, Brisbane, Qld 4006, Australia Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandFlorkowski, Chris M.论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandSage, Martin论文数: 0 引用数: 0 h-index: 0机构: Christchurch Hosp, Dept Anat Pathol, Canterbury Dist Hlth Board, Christchurch 8140, New Zealand New Zealand Natl Forens Pathol Serv, Christchurch 8013, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandHofken, Thomas论文数: 0 引用数: 0 h-index: 0机构: Brunel Univ London, Dept Life Sci, Uxbridge UB8 3PH, Middx, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandAlhaddad, Bader论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandKremer, Laura S.论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandKopajtich, Robert论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandFeichtinger, Rene G.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandSperl, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandRodenburg, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMinet, Jean Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Basel, Dept Neonatol UKBB Bruderholz, CH-4056 Basel, Switzerland Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandDobbie, Angus论文数: 0 引用数: 0 h-index: 0机构: Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds LS7 4SA, W Yorkshire, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany DZHK German Ctr Cardiovasc Res, Partner Site Munich Heart Alliance, D-80802 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandGeorge, Peter M.论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Univ Otago, Dept Pathol, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandJohnson, Colin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leeds, Leeds Inst Biomed & Clin Sci, Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandTaylor, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Inst Human Genet, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandDoudney, Kit论文数: 0 引用数: 0 h-index: 0机构: Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New ZealandMayr, Johannes A.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Canterbury Dist Hlth Board, Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8140, New Zealand
- [4] Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated familiesGENE, 2024, 916Gonzalez, Cristina Gomez论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, Spain Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain CIBERCV, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainCano, Ivan del Campo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta de Hierro Majadahonda, Dept Pediat, Madrid, Spain IDIPHISA, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainFernandez-Avila, Ana Isabel论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain CIBERCV, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainSuarez-Mier, Maria Paz论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Toxicol & Ciencias Forenses, Serv Histopatol, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainSagastizabal, Maria Jose论文数: 0 引用数: 0 h-index: 0机构: Inst Med Legal & Ciencias Forenses, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainGarcia-Roves, Reyes Alvarez论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Pediat Cardiol Dept, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainFernandez, Irene Mendez论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, Spain Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain CIBERCV, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainVilches, Silvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, Spain Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain CIBERCV, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainJimenez, Miriam Centeno论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Pediat Cardiol Dept, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainSanchez-Manjavacas, Ana Siles论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta de Hierro Majadahonda, Dept Pediat, Madrid, Spain IDIPHISA, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainCarrasco, Ana Usano论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta de Hierro Majadahonda, Dept Pediat, Madrid, Spain IDIPHISA, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainGonzalez-Vioque, Emiliano论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Puerta de Hierro, Dept Biochem, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainOchoa, Juan Pablo论文数: 0 引用数: 0 h-index: 0机构: Hlth Code, La Coruna, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainMedrano, Constancio论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Pediat Cardiol Dept, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainLopez, Esther Gonzalez论文数: 0 引用数: 0 h-index: 0机构: CIBERCV, Madrid, Spain IDIPHISA, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainGarcia-Pavia, Pablo论文数: 0 引用数: 0 h-index: 0机构: CIBERCV, Madrid, Spain IDIPHISA, Madrid, Spain Ctr Nacl Invest Cardiovasc CNIC, Madrid, Spain Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainBermejo, Javier论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, Spain Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain CIBERCV, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, SpainCastro, Maria Angeles Espinosa论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, Spain Univ Complutense Madrid, Fac Med, Madrid, Spain Inst Invest Sanitaria Gregorio Maranon, Madrid, Spain CIBERCV, Madrid, Spain Hosp Gen Univ Gregorio Maranon, Dept Cardiol, Madrid, Spain
- [5] Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesGenome Medicine, 17 (1)Francesca Mattioli论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsRún Friðriksdóttir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsAnne Hebert论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsSissy Bassani论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsNazia Ibrahim论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsShagufta Naz论文数: 0 引用数: 0 h-index: 0机构: Lahore College for Women University,Craniofacial and Cleft Research Center University of Lausanne,Center for Integrative GenomicsJacqueline Chrast论文数: 0 引用数: 0 h-index: 0机构: Lahore College for Women University,Craniofacial and Cleft Research Center University of Lausanne,Center for Integrative GenomicsClara Pailler-Pradeau论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsÁsmundur Oddsson论文数: 0 引用数: 0 h-index: 0机构: University of Lausanne,Center for Integrative Genomics University of Lausanne,Center for Integrative GenomicsPatrick Sulem论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsGisli H. Halldorsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsPáll Melsted论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsDaníel F. Guðbjartsson论文数: 0 引用数: 0 h-index: 0机构: University of Iceland,Department of Pathology and Laboratory Medicine University of Lausanne,Center for Integrative GenomicsFlavia Palombo论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsTommaso Pippucci论文数: 0 引用数: 0 h-index: 0机构: University of Iceland,Department of Pathology and Laboratory Medicine University of Lausanne,Center for Integrative GenomicsNayereh Nouri论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen Inc,School of Engineering and Natural Sciences University of Lausanne,Center for Integrative GenomicsMarco Seri论文数: 0 引用数: 0 h-index: 0机构: University of Iceland,Department of Pathology and Laboratory Medicine University of Lausanne,Center for Integrative GenomicsEmily G. Farrow论文数: 0 引用数: 0 h-index: 0机构: IRCCS Istituto Delle Scienze Neurologiche,Bioinformatics Competence Center University of Lausanne,Center for Integrative GenomicsCarol J. Saunders论文数: 0 引用数: 0 h-index: 0机构: Programma Di Neurogenetica,Department of Ophthalmology University of Lausanne,Center for Integrative GenomicsNicolas Guex论文数: 0 引用数: 0 h-index: 0机构: IRCCS Azienda Ospedaliero-Universitaria Di Bologna,Faculty of Medicine, School of Health Sciences University of Lausanne,Center for Integrative GenomicsMuhammad Ansar论文数: 0 引用数: 0 h-index: 0机构: Programma Di Neurogenetica,Department of Ophthalmology University of Lausanne,Center for Integrative GenomicsKari Stefansson论文数: 0 引用数: 0 h-index: 0机构: Isfahan University of Medical Sciences,Health2030 Genome Center University of Lausanne,Center for Integrative GenomicsAlexandre Reymond论文数: 0 引用数: 0 h-index: 0机构: University of Missouri-Kansas City School of Medicine,undefined University of Lausanne,Center for Integrative Genomics
- [6] Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (03) : 666 - 673论文数: 引用数: h-index:机构:Gordon, Christopher T.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceGodard, Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, CNRS, Inst Cellular Biochem & Genet, IBGC,UMR 5095, F-33000 Bordeaux, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, Nedlands, WA 6009, Australia Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceOufadem, Myriam论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceVasnier, Christelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Inst Integrat Biol Cell,I2BC,CEA, F-91198 Gif Sur Yvette, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceRambaud, Caroline论文数: 0 引用数: 0 h-index: 0机构: Raymond Poincare Univ Hosp, APHP, Forens & Pathol Dept, F-92380 Garches, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceNitschke, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceBole-Feysot, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceMasson, Cecile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France论文数: 引用数: h-index:机构:Longman, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Southern Gen Hosp, West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland Western Gen Hosp, Dept Clin Genet, South East Scotland Reg Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceLaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Med Res, Nedlands, WA 6009, Australia Harry Perkins Inst Med Res, Nedlands, WA 6009, Australia Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceKugener, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Hos Civils Lyon, Hop Femme Mere Enfant, SIDS Reference Ctr, F-69677 Bron, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceBonnet, Damien论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Unite Medicochirurg Cardiol Congenitale & Pediat, Ctr Reference Malformat Cardiaques Congenitales C, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceBouvagnet, Patrice论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Lab Cardiogenet, F-69667 Bron, France Univ Lyon 1, INSERM, U1217, CNRS,UMR5310, Lyon, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceDi Filippo, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Cardiol Pediat, 59 Bd Pinel, F-69667 Bron, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Charron, Philippe论文数: 0 引用数: 0 h-index: 0机构: Hop Ambroise Pare, Ctr Reference Malad Cardiaques Hereditaires, F-75651 Paris 13, France Univ Versailles St Quentin, Hop Pitie Salpetriere, F-75651 Paris 13, France AP HP, F-75651 Paris 13, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceRotig, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceLyonnet, Stanislas论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Serv Genet, F-75015 Paris, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceDautant, Alain论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, CNRS, Inst Cellular Biochem & Genet, IBGC,UMR 5095, F-33000 Bordeaux, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France论文数: 引用数: h-index:机构:di Rago, Jean-Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, CNRS, Inst Cellular Biochem & Genet, IBGC,UMR 5095, F-33000 Bordeaux, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, FranceDelahodde, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Inst Integrat Biol Cell,I2BC,CEA, F-91198 Gif Sur Yvette, France Univ Paris 05, INSERM, U1163, Sorbonne Paris Cite,Inst Imagine, 24 Blvd Montparnasse, F-75015 Paris, France论文数: 引用数: h-index:机构:
- [7] Novel bi-allelic DMXL2 gene variants in patients with Ohtahara syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1498 - 1499Essid, Myriam论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, France Univ Claude Bernard Lyon 1, Univ Lyon, CNRS, Inst Neuromyogene,INSERM,UMR 5310,U1217, Lyon, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceColmard, Maxime论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Guy Chauliac Hosp, Neuropaediat Dept, Montpellier, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceCarneiro, Maryline论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Neuropaediat Dept, Hop Femme Mere Enfant, Lyon, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceMonin, Pauline论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceRuault, Valentin论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Med Genet, Montpellier, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceChemaly, Nicole论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malad Univ Hosp, APHP, Pediat Neurol Dept, Paris, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceDozieres, Blandine论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Univ Hosp, APHP, Dept Pediat Neurol & Metab Dis, Paris, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FrancePerrin, Laurence论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Univ Hosp, APHP, Dept Pediat Neurol & Metab Dis, Paris, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceHashemi-Gorji, Farzad论文数: 0 引用数: 0 h-index: 0机构: Shahid Beheshti Univ Med Sci, Dept Med Genet, Fac Med, Tehran, Iran Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FrancePiarroux, Julie论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Guy Chauliac Hosp, Neuropaediat Dept, Montpellier, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, France论文数: 引用数: h-index:机构:Villard, Laurent论文数: 0 引用数: 0 h-index: 0机构: Hop Timone Enfants, Marseille Med Genet, Marseille, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceNabbout, Rima论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malad Univ Hosp, APHP, Pediat Neurol Dept, Paris, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceBarcia, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Necker Enfants Malad Hosp, Dept Med Genet, Paris, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, FranceLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, France Univ Claude Bernard Lyon 1, Univ Lyon, CNRS, Inst Neuromyogene,INSERM,UMR 5310,U1217, Lyon, France Hosp Civils Lyon, Grp Hosp Est, Dept Med Genet, Hop Femme Mere Enfant, Lyon, France
- [8] A Patient With Hypogammaglobulinemia and Bi-allelic Variants in the RNU4ATAC GeneCLINICAL IMMUNOLOGY, 2023, 250 : 15 - 16Lairet, Stephania论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Miami, FL USA Nicklaus Childrens Hosp, Miami, FL USABarreto, Ana Maria Rodriguez论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Miami, FL USA Nicklaus Childrens Hosp, Miami, FL USAHernandez-Trujillo, Vivian论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Div AI, Miami, FL USA Nicklaus Childrens Hosp, Miami, FL USACalderon, Jose论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Allergy & Immunol, Miami, FL USA Nicklaus Childrens Hosp, Miami, FL USA
- [9] Bi-allelic variants in MDH2: Expanding the clinical phenotypeCLINICAL GENETICS, 2022, 101 (02) : 260 - 264Ticci, Chiara论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp, Metab Dis Unit, Florence, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyNesti, Claudia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyRubegni, Anna论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyDoccini, Stefano论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyBaldacci, Jacopo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyDal Canto, Flavio论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyRagni, Luca论文数: 0 引用数: 0 h-index: 0机构: St Orsola Hosp, Paediat Cardiol & ACHD Unit, Bologna, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyCordelli, Duccio M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Sci Neurol Bologna, UOC Neuropsichiatria Pediat, Bologna, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalyDonati, Maria Alice论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Hosp, Metab Dis Unit, Florence, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, ItalySantorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy Meyer Childrens Hosp, Metab Dis Unit, Florence, Italy
- [10] PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesGENETICS IN MEDICINE, 2021, 23 (12) : 2415 - 2425论文数: 引用数: h-index:机构:Achleitner, Melanie T.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria Univ Paris, Inst Imagine, IINSERM U1163, Paris, Francede Bellaing, Anne Moreau论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Imagine, IINSERM U1163, Paris, France Hop Necker Enfants Malad, AP HP, Unite Medicochirurgicale Cardiol Pediat, Paris, France Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceEdwards, Matthew论文数: 0 引用数: 0 h-index: 0机构: Royal Brompton & Harefield NHS Trust, Clin Genet & Genom Lab, London, England Univ Paris, Inst Imagine, IINSERM U1163, Paris, France论文数: 引用数: h-index:机构:Mittal, Kirti论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Translat Med program, Toronto, ON, Canada Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Genet & Genome Biol Program, Toronto, ON, Canada Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceDunn, Kyla E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Childrens Hlth, Childrens Heart Ctr, Stanford, CA USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceGrove, Megan E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Med Clin Genom Program, Stanford, CA USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceTysoe, Carolyn J.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Exeter Genom Lab, Exeter, Devon, England Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceDimartino, Clemantine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris, Inst Imagine, IINSERM U1163, Paris, France Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceCameron, Jessie论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Translat Med program, Toronto, ON, Canada Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Genet & Genome Biol Program, Toronto, ON, Canada Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceKanthi, Anil论文数: 0 引用数: 0 h-index: 0机构: Manipal 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h-index: 0机构: Clin Genet New Zealand, Christchurch, New Zealand Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceWortmann, Saskia B.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria Amalia Childrens Hosp, Nijmegen, Netherlands Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceFisk, Dianna G.论文数: 0 引用数: 0 h-index: 0机构: Stanford Med Clin Genom Program, Stanford, CA USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceKoopmann, Tamara T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Translat Med program, Toronto, ON, Canada Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Genet & Genome Biol Program, Toronto, ON, Canada Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceRafiq, Muhammad A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Translat Med program, Toronto, ON, Canada Hosp Sick Children, Peter Gilgan Ctr Res & Learning, Genet & Genome Biol Program, Toronto, ON, Canada Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceMerker, Jason D.论文数: 0 引用数: 0 h-index: 0机构: Sch Med, Dept Pathol, Stanford, CA USA Univ N Carolina, Sch Med, Dept Pathol, Chapel Hill, NC 27515 USA Univ N Carolina, Sch Med, Dept Pathol, Chapel Hill, NC 27515 USA Univ N Carolina, Sch Med, Dept Lab Med, Chapel Hill, NC 27515 USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceParikh, Sumith论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Genet, Ctr Comprehens Canc, Chapel Hill, NC 27515 USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceAhimaz, Priyanka论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, New York, NY USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceWeintraub, Robert G.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Mitochondrial Med Ctr, Cleveland, OH 44106 USA Univ Paris, Inst Imagine, IINSERM U1163, Paris, FranceMa, Alan S.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp Melbourne, Melbourne, Vic, Australia Childrens Hosp Westmead, Western Sydney Genet Program, Dept Clin Genet, 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