共 50 条
- [31] Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing[J]. JOURNAL OF INTERNAL MEDICINE, 2014, 276 (04) : 396 - 403Maglio, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenMancina, R. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Clin Nutr Unit, Catanzaro, Italy Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenMotta, B. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenStef, M.论文数: 0 引用数: 0 h-index: 0机构: Progenika, Biopharma SA, Derio, Spain Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenPirazzi, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenPalacios, L.论文数: 0 引用数: 0 h-index: 0机构: Progenika, Biopharma SA, Derio, Spain Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenAskaryar, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenBoren, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenWiklund, O.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, SwedenRomeo, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden Univ Gothenburg, Sahlgrenska Acad, Inst Med, Dept Mol & Clin Med,Wallenberg Lab, SE-41345 Gothenburg, Sweden
- [32] Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2016, 87 (12): : 1384 - 1385Teoh, Hooi Ling论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Sydney Childrens Hosp, Dept Pediat Neurol, High St, Randwick, NSW 2031, Australia Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, AustraliaSampaio, Hugo论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Sydney Childrens Hosp, Dept Pediat Neurol, High St, Randwick, NSW 2031, Australia Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, AustraliaRoscioli, Tony论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Genet, Randwick, NSW, Australia Kinghorn Ctr Clin, Darlinghurst, NSW, Australia Univ New South Wales, St Vincents Clin Sch, Darlinghurst, NSW, Australia Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, AustraliaFarrar, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Sydney Childrens Hosp, Dept Pediat Neurol, High St, Randwick, NSW 2031, Australia Univ New South Wales, UNSW Med, Sch Womens & Childrens Hlth, Sydney, NSW, Australia
- [33] Validation of next-generation sequencing technologies in genetic diagnosis of dementia[J]. NEUROBIOLOGY OF AGING, 2014, 35 (01) : 261 - 265Beck, John论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandPittman, Alan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandAdamson, Gary论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandCampbell, Tracy论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandKenny, Joanna论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Natl Prion Clin, London WC1N 3BG, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandRohrer, Jon D.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, Englandde Silva, Rohan论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Neurol, Reta Lila Weston Inst, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandShoai, Maryam论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandUphill, James论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandPoulter, Mark论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandHardy, John论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Mol Neurosci, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandMummery, Catherine J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandWarren, Jason D.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandSchott, Jonathan M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandFox, Nick C.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandRossor, Martin N.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandCollinge, John论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England Natl Hosp Neurol & Neurosurg, Natl Prion Clin, London WC1N 3BG, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, EnglandMead, Simon论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England Natl Hosp Neurol & Neurosurg, Natl Prion Clin, London WC1N 3BG, England UCL Inst Neurol, Dept Neurodegenerat Dis, MRC Prion Unit, London, England
- [34] Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies[J]. NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 806 - 806Savarese, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, Italy Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyTorella, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, Italy Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyMutarelli, M.论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, TIGEM, Naples, Italy Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyDionisi, M.论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med, TIGEM, Naples, Italy Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyGiugliano, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyDi Fruscio, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyIacomino, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyGarofalo, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyAurino, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyBlanco, F. Del Vecchio论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyPiluso, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyPolitano, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyFanin, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Padua, Italy Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyAngelini, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Neurosci, Padua, Italy Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, ItalyNigro, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Naples 2, Med Genet Lab, Dipartimento Patol Gen, Naples, Italy
- [35] THE ROLE OF NEXT GENERATION SEQUENCING IN THE DIFFERENTIAL DIAGNOSIS OF CAROLI'S SYNDROME[J]. BALKAN JOURNAL OF MEDICAL GENETICS, 2018, 21 (02) : 49 - 53Smolovic, B.论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, Montenegro Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, MontenegroMuhovic, D.论文数: 0 引用数: 0 h-index: 0机构: Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, Montenegro Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, MontenegroHodzic, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, MontenegroBergant, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, MontenegroPeterlin, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Clin Ctr Montenegro, Dept Gastroenterohepatol, Internal Clin, Podgorica, Montenegro
- [36] Advances in Alport syndrome diagnosis using next-generation sequencing[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (01) : 50 - 57Artuso, Rosangela论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyFallerini, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyDosa, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyScionti, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyClementi, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Pediat, Padua, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyGarosi, Guido论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyMassella, Laura论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp & Res Inst, Nephrol & Dialysis Unit, Rome, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyEpistolato, Maria Carmela论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyMancini, Roberta论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese, Dipartimento Emergenza Urgenza, UOC Genet Med, I-53100 Siena, Italy Azienda Osped Univ Senese, Serv Diagnost, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyMari, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Azienda Osped Univ Senese, Dipartimento Emergenza Urgenza, UOC Genet Med, I-53100 Siena, Italy Azienda Osped Univ Senese, Serv Diagnost, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyLongo, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Pediat, Padua, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyAriani, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyRenieri, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Azienda Osped Univ Senese, Dipartimento Emergenza Urgenza, UOC Genet Med, I-53100 Siena, Italy Azienda Osped Univ Senese, Serv Diagnost, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, ItalyBruttini, Mirella论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy Azienda Osped Univ Senese, Dipartimento Emergenza Urgenza, UOC Genet Med, I-53100 Siena, Italy Azienda Osped Univ Senese, Serv Diagnost, I-53100 Siena, Italy Univ Siena, Dept Biotechnol, Med Genet Sect, I-53100 Siena, Italy
- [37] Advances in Alport syndrome diagnosis using next-generation sequencing[J]. European Journal of Human Genetics, 2012, 20 : 50 - 57Rosangela Artuso论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentChiara Fallerini论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentLaura Dosa论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentFrancesca Scionti论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentMaurizio Clementi论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentGuido Garosi论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentLaura Massella论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentMaria Carmela Epistolato论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentRoberta Mancini论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentFrancesca Mari论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentIlaria Longo论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentFrancesca Ariani论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentAlessandra Renieri论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology DepartmentMirella Bruttini论文数: 0 引用数: 0 h-index: 0机构: Medical Genetics Section,Biotechnology Department
- [38] Diagnosis of a boy with sporadic Alport Syndrome using next generation sequencing[J]. PEDIATRIC NEPHROLOGY, 2016, 31 (10) : 1812 - 1813Yu, Z.论文数: 0 引用数: 0 h-index: 0机构: Fuzhou Dongfang Hosp, Fuzhou, Peoples R China Fuzhou Dongfang Hosp, Fuzhou, Peoples R ChinaLi, L.论文数: 0 引用数: 0 h-index: 0机构: Fuzhou Dongfang Hosp, Fuzhou, Peoples R China Fuzhou Dongfang Hosp, Fuzhou, Peoples R ChinaWang, S.论文数: 0 引用数: 0 h-index: 0机构: Fuzhou Dongfang Hosp, Fuzhou, Peoples R China Fuzhou Dongfang Hosp, Fuzhou, Peoples R ChinaZhao, F.论文数: 0 引用数: 0 h-index: 0机构: Fuzhou Dongfang Hosp, Fuzhou, Peoples R China Fuzhou Dongfang Hosp, Fuzhou, Peoples R ChinaNie, X.论文数: 0 引用数: 0 h-index: 0机构: Fuzhou Dongfang Hosp, Fuzhou, Peoples R China Fuzhou Dongfang Hosp, Fuzhou, Peoples R ChinaHuang, J.论文数: 0 引用数: 0 h-index: 0机构: Fuzhou Dongfang Hosp, Fuzhou, Peoples R China Fuzhou Dongfang Hosp, Fuzhou, Peoples R China
- [39] The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome[J]. FRONTIERS IN CELLULAR NEUROSCIENCE, 2015, 9Gold, Wendy Anne论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Western Sydney Genet Program, New South Wales Ctr Rett Syndrome Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Western Sydney Genet Program, New South Wales Ctr Rett Syndrome Res, Sydney, NSW 2145, AustraliaChristodoulou, John论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Western Sydney Genet Program, New South Wales Ctr Rett Syndrome Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Sydney, Sydney Med Sch, Discipline Genet Med, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Western Sydney Genet Program, New South Wales Ctr Rett Syndrome Res, Sydney, NSW 2145, Australia
- [40] Next Generation Sequencing for the characterization of Rett-like spectrum disorders[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 359 - 360Leonardi, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Padua, Italy Pediat Res Inst Citta Speranza, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyBellini, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Padua, Italy Pediat Res Inst Citta Speranza, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyAspromonte, M. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Padua, Italy Pediat Res Inst Citta Speranza, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyNecci, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyBettella, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Padua, Italy Pediat Res Inst Citta Speranza, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyPolli, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Padua, Italy Pediat Res Inst Citta Speranza, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyBigoni, S.论文数: 0 引用数: 0 h-index: 0机构: Osped Univ S Anna, UOL Genet Medica, Dip Riprod & Accrescimento, Ferrara, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyNegrin, S.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Child Neuropsychiat Unit, Conegliano, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyDanieli, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Eugenio Medea, Child Neuropsychiat Unit, Conegliano, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyMammi, I.论文数: 0 引用数: 0 h-index: 0机构: Dolo Gen Hosp, Med Genet Unit, Venice, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalySoli, F.论文数: 0 引用数: 0 h-index: 0机构: Santa Chiara Hosp, Dept Med Genet, Trento, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyD'Arrigo, S.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS, Dept Dev Neurol, Ist Neurol C Besta, Milan, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalySimonati, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Dept Neurosci, Biomed, Movement Neurol, Verona, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyTurolla, L.论文数: 0 引用数: 0 h-index: 0机构: Azienda ULSS 2, UOS Genet Med, Treviso, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyVittorini, R.论文数: 0 引用数: 0 h-index: 0机构: Presidio OIRM, Dept Pediat, Turin, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalySartori, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Paediat Neurol & Neurophysiol Unit, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyTosatto, S. C. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, ItalyMurgia, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth, Padua, Italy Univ Padua, Dept Woman & Child Hlth, Padua, Italy