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- [1] Clinical spectrum and genotype-phenotype correlations of GABRB2-related encephalopathiesEPILEPSIA, 2023, 64 : 124 - 125Mohammadi, N. Azarinejad论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark论文数: 引用数: h-index:机构:Absalom, N. L.论文数: 0 引用数: 0 h-index: 0机构: Western Sydney Univ, Sydney, NSW, Australia Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkJohannesen, K. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Copenhagen, Copenhagen, Denmark Rigshospitalet, Copenhagen, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkStrobaek, D.论文数: 0 引用数: 0 h-index: 0机构: Saniona A S, Ballerup, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkYael, M-Y论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Holon, Israel Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkRanguin, K.论文数: 0 引用数: 0 h-index: 0机构: CHU Cote Nacre, Genet Dept, Caen, France Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkGerard, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Cote Nacre, Genet Dept, Caen, France Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark论文数: 引用数: h-index:机构:Patel, C.论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane Womens Hosp, Genet Hlth Queensland, Brisbane, Qld, Australia Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkKlepper, J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Aschaffenburg Alzenau, Aschaffenburg, Germany Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkBonanni, P.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Medea Sci Inst, Epilepsy Unit, Treviso, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkMinghetti, S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp A Meyer, Florence, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkTrivisano, M.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Rare & Complex Epilepsy Unit, Rome, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkSpecchio, N.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Rare & Complex Epilepsy Unit, Rome, Italy Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkAmor, D.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Australia Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark论文数: 引用数: h-index:机构:Chebib, M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkJensen, A. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Drug Design & Pharmacol, Copenhagen, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkAhring, P. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney, NSW, Australia Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, DenmarkMoller, R. S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, Dianalund, Denmark
- [2] Genotype-phenotype correlations in peroxisomal disordersDEVELOPMENTAL BRAIN DYSFUNCTION, 1997, 10 (05): : 282 - 292Moser, HW论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Baltimore, MD 21205 USA Johns Hopkins Univ, Kennedy Krieger Inst, Baltimore, MD 21205 USA
- [3] Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsGENETICS IN MEDICINE, 2022, 24 (03) : 681 - 693Johannesen, Katrine M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkIqbal, Sumaiya论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Dev Therapeut CDOT, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit ATGU, Boston, MA 02114 USA Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkGuazzi, Milena论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Med, Genoa, Italy Danish Epilepsy Ctr Filadelfia, Dept Clin Neurophysiol, Dianalund, Denmark Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkMohammadi, Nazanin A.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkPerez-Palma, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Desarrollo, Fac Med Clin Alemana, Ctr Genet & Genom, Santiago, Chile Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkSchaefer, Elise论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkDe Saint Martin, Anne论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Dept Pediat Neurol, Strasbourg, France Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkAbiwarde, Marie Therese论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Dept Pediat Neurol, Strasbourg, France Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkMcTague, Amy论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dev Neurosci Programme, Mol Neurosci, London, England Great Ormond St Hosp Children NHS Fdn Trust, Dept Neurol, London, England Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkPons, Roser论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, I Agia Sofia Children Hosp, Dept Pediat 1, Athens, Greece Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkPiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: CHRU Strasburg, Hop Civil, Lab Diagnost Genet, Strasbourg, France Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dev Neurosci Programme, Mol Neurosci, London, England Great Ormond St Hosp Children NHS Fdn Trust, Dept Neurol, London, England Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkAmbegaonkar, Gautam论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Child Dev Ctr, Dept Paediat Neurol, Cambridge, England Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkFirth, Helen论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkSanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, NIHR BioResource, Cambridge, England Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkDeprez, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Cote dAzur, IPMC, CNRS, Sophia Antipolis, France Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkJansen, Katrien论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp KU Leuven, Dept Pediat Neurol, Leuven, Belgium Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkDe Waele, Liesbeth论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp KU Leuven, Dept Pediat Neurol, Leuven, Belgium Dept Dev & Regenerat, Kulak Kortrijk Campus, Kortrijk, Belgium Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkBriltra, Eva H.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkVerbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmarkvan Kempen, Marjan论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkFazeli, Walid论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Dept Pediat Neurol, Bonn, Germany Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: IRCCS Giannina Gaslini Inst, Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkZara, Federico论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Giannina Gaslini Inst, Lab Neurogenet & Neurosci, Genoa, Italy Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkVisser, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Stichting Epilepsie Instellingen Nederland SEIN, Hoofddorp, Netherlands Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkBraakman, Hilde M. H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Amalia Childrens Hosp, Dept Pediat Neurol, Nijmegen, Netherlands Acad Ctr Epileptol Kempenhaeghe, Dept Neurol, Heeze, Netherlands Maastricht Univ Med Ctr, Heeze, Netherlands Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkHaeusler, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Pediat, Div Neuropediat & Social Pediat, Aachen, Germany Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkElbracht, Miriam论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Fac Med, Inst Human Genet, Aachen, Germany Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkVaher, Ulvi论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Tartu, Estonia ERN EpiCARE, Tartu, Estonia Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkSmol, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CHU Lille, Inst Genet Med, Lille, France Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Med Ctr, Inst Human Genet, Leipzig, Germany Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig Med Ctr, Inst Human Genet, Leipzig, Germany Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkKennedy, Joanna论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol NHS Fdn Trust, Clin Genet Serv, St Michaels Hosp, Bristol, Avon, England Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark论文数: 引用数: h-index:机构:Au, Ping Yee Billie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp Res Inst, Dept Med Genet, Calgary, AB, Canada Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkSmyth, Kimberly论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Pediat, Calgary, AB, Canada Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkKaplan, Julie论文数: 0 引用数: 0 h-index: 0机构: Nemours AI DuPont Hosp Children, Div Med Genet, Wilmington, DE USA Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkThomas, Morgan论文数: 0 引用数: 0 h-index: 0机构: Nemours AI duPont Hosp Children, Precis Med Genet Testing Stewardship Program, Wilmington, DE USA Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkDewenter, Malin K.论文数: 0 引用数: 0 h-index: 0机构: Johannes Gutenberg Univ Mainz, Mainz Inst Humangenet, Inst Human Genet, Univ Med, Mainz, Germany Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkDinopoulos, Argirios论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Attiko Univ Hosp, Dept Pediat 3, Haidari, Greece Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkCampbell, Arthur J.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Dev Therapeut CDOT, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkLal, Dennis论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Cleveland Clin, Genom Med Inst, Lerner Res Inst, Cleveland, OH 44106 USA Cleveland Clin, Epilepsy Ctr, Neurol Inst, Cleveland, OH 44106 USA Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkLederer, Damien论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkLiao, Vivian W. Y.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkAhring, Philip K.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, DenmarkMoller, Rikke S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Danish Epilepsy Ctr Filadelfia, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark论文数: 引用数: h-index:机构:
- [4] Genotype-phenotype correlations in disorders of peroxisome biogenesisMOLECULAR GENETICS AND METABOLISM, 1999, 68 (02) : 316 - 327Moser, HW论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD 21205 USA Johns Hopkins Univ, Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD 21205 USA
- [5] Genotype-phenotype correlationsARRHYTHMOGENIC RV CARDIOMYOPATHY/ DYSPLASIA: RECENT ADVANCES, 2007, : 21 - +Bauce, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, Italy Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, ItalyNava, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, Italy Univ Padua, Dept Cardiol Thorac & Vasc Sci, Padua, Italy
- [6] Gene constraint and genotype-phenotype correlations in neurodevelopmental disordersCURRENT OPINION IN GENETICS & DEVELOPMENT, 2020, 65 : 69 - 75Betancur, Catalina论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Neurosci Paris Seine, Inst Biol Paris Seine, INSERM,CNRS, F-75005 Paris, France Sorbonne Univ, Neurosci Paris Seine, Inst Biol Paris Seine, INSERM,CNRS, F-75005 Paris, FranceBuxbaum, Joseph D.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Seaver Autism Ctr Res & Treatment, Dept Psychiat, New York, NY 10029 USA Sorbonne Univ, Neurosci Paris Seine, Inst Biol Paris Seine, INSERM,CNRS, F-75005 Paris, France
- [7] Genotype-phenotype correlations in recessive RYR1-related myopathiesOrphanet Journal of Rare Diseases, 8Kimberly Amburgey论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteAngela Bailey论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteJean H Hwang论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteMark A Tarnopolsky论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteCarsten G Bonnemann论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteLivija Medne论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteKatherine D Mathews论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteJames Collins论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteJasper R Daube论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteGregory P Wellman论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteBrian Callaghan论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteNigel F Clarke论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research InstituteJames J Dowling论文数: 0 引用数: 0 h-index: 0机构: University of Michigan Medical Center,Department of Pediatrics, Taubman Medical Research Institute
- [8] Genotype-phenotype correlations in recessive RYR1-related myopathiesORPHANET JOURNAL OF RARE DISEASES, 2013, 8Amburgey, Kimberly论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA论文数: 引用数: h-index:机构:Hwang, Jean H.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USATarnopolsky, Mark A.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Dept Neuromuscular & Neurometabol Dis, Hamilton, ON, Canada Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USABonnemann, Carsten G.论文数: 0 引用数: 0 h-index: 0机构: NIH, Neuromuscular & Neurogenet Disorders Childhood Se, Bethesda, MD 20892 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USAMedne, Livija论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USAMathews, Katherine D.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Dept Pediat, Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Carver Coll Med, Iowa City, IA 52242 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USACollins, James论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Dept Pediat Neurol, Cincinnati, OH 45229 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USADaube, Jasper R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Fdn Med Educ & Res, Dept Neurol, Rochester, MN USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USAWellman, Gregory P.论文数: 0 引用数: 0 h-index: 0机构: Delta Pathol Grp, Shreveport, LA USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USACallaghan, Brian论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USAClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2145, Australia Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USADowling, James J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA Univ Michigan, Ctr Med, Dept Pediat, Taubman Med Res Inst, Ann Arbor, MI 48109 USA
- [9] Genotype-phenotype correlations in recessive RYR1-related myopathiesNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 809 - 809Amburgey, K.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaBailey, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ann Arbor, MI 48109 USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaHwang, J. H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Sydney, NSW, Australia Hosp Sick Children, Toronto, ON M5G 1X8, CanadaTamopolsky, M. A.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaBoennemann, C. G.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bethesda, MD 20892 USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaMedne, L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaMathews, K. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Iowa City, IA USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaCollins, J.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaDaube, J. R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Fdn Med Educ & Res, Rochester, MN USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaWellman, G. P.论文数: 0 引用数: 0 h-index: 0机构: Delta Pathol Grp, Shreveport, LA USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaCallaghan, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Ctr, Ann Arbor, MI USA Hosp Sick Children, Toronto, ON M5G 1X8, CanadaVajsar, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaYoon, G.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaCohn, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaClarke, N. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney, NSW 2006, Australia Hosp Sick Children, Toronto, ON M5G 1X8, CanadaDowling, J. J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, Canada
- [10] Genotype-phenotype correlations in CMTX1JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2005, 10 : 31 - 32Hahn, AF论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, CanadaSiskind, C论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, CanadaKrajewski, K论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, CanadaLewis, RA论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, CanadaShy, ME论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, London, ON, Canada