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- [1] Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypesPARKINSONISM & RELATED DISORDERS, 2019, 69 : 111 - 118Kumar, Kishore R.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Concord Hosp, Mol Med Lab, Concord, NSW 2139, Australia Concord Hosp, Dept Neurol, Concord, NSW 2139, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaDavis, Ryan L.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaTchan, Michel C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Westmead Hosp, Dept Genet Med, Westmead, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaWali, G. M.论文数: 0 引用数: 0 h-index: 0机构: Jawaharlal Nehru Med Coll, Neurospecialties Ctr, Belgaum, India Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaMahant, Neil论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaNg, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Royal North Shore Hosp, Dept Neurol & Neurophysiol, Reserve Rd, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaKotschet, Katya论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Neurosci Inst, Parkville, Vic 3052, Australia St Vincent Hosp, Dept Neurol, Fitzroy, Vic 3065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaSiow, Sue-Faye论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Westmead Hosp, Dept Genet Med, Westmead, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaGu, Jason论文数: 0 引用数: 0 h-index: 0机构: Wollongong Hosp, Dept Neurol, Wollongong, NSW 2500, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaWalls, Zachary论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Engn & Informat Technol, Darlington, NSW 2008, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaKang, Ce论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaWali, Gautam论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaLevy, Stan论文数: 0 引用数: 0 h-index: 0机构: Campbelltown Hosp, Campbelltown, NSW 2560, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaSen Phua, Chung论文数: 0 引用数: 0 h-index: 0机构: Campbelltown Hosp, Campbelltown, NSW 2560, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaYiannikas, Con论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Concord Hosp, Dept Neurol, Concord, NSW 2139, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaDarveniza, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Med, Sydney, NSW, Australia St Vincents Hosp, Dept Neurol, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaChang, Florence C. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaMorales-Briceno, Hugo论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaRowe, Dominic B.论文数: 0 引用数: 0 h-index: 0机构: Macquarie Univ, Fac Med & Hlth Sci, Dept Clin Med, Macquarie Pk, NSW 2109, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaDrew, Alex论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaGayevskiy, Velimir论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaCowley, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Childrens Canc Inst, Kensington, NSW 2750, Australia UNSW Sydney, St Vincents Clin Sch, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaMinoche, Andre E.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaTisch, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Med, Sydney, NSW, Australia St Vincents Hosp, Dept Neurol, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaHayes, Michael论文数: 0 引用数: 0 h-index: 0机构: Concord Hosp, Dept Neurol, Concord, NSW 2139, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaKummerfeld, Sarah论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaFung, Victor S. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Wollongong Hosp, Dept Neurol, Wollongong, NSW 2500, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaSue, Carolyn M.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Wollongong Hosp, Dept Neurol, Wollongong, NSW 2500, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia
- [2] Genetic diagnosis of Mendelian disorders via RNA sequencingNATURE COMMUNICATIONS, 2017, 8Kremer, Laura S.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyBader, Daniel M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Informat, D-85748 Garching, Germany Ludwig Maximilian Univ Munchen, Quantitat Biosci Munich Gene Ctr, Dept Biochem, D-81377 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyMertes, Christian论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Informat, D-85748 Garching, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyKopajtich, Robert论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyPichler, Garwin论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biochem, Dept Prote & Signal Transduct, D-82152 Martinsried, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyIuso, Arcangela论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Univ Tubingen, Inst Med Genet & Appl Gen, D-72076 Tubingen, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanySchwarzmayr, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyTerrile, Caterina论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyKonarikova, Eliska论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyRepp, Birgit论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, 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Daniele论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS, Neurol Inst Carlo Besta, Unit Mol Neurogenet, I-20126 Milan, Italy Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyMayr, Johannes A.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Dept Pediat, A-5020 Salzburg, Austria Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyRoetig, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Inst Imagine, U1163, F-75015 Paris, France Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyFreisinger, Peter论文数: 0 引用数: 0 h-index: 0机构: Klinikum Reutlingen, Dept Pediat, D-72764 Reutlingen, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyDistelmaier, Felix论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyStrom, Tim M.论文数: 0 引用数: 0 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- [3] Genetic diagnosis of Mendelian disorders via RNA sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 74 - 75Kremer, L. S.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyBader, D. M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Computat Biol, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyMertes, C.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Computat Biol, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyKopajtich, R.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyPichler, G.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biochem, Dept Prote & Signal Transduct, Martinsried, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyIuso, A.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyHaack, T. B.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyGraf, E.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanySchwarzmayr, T.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyTerrile, C.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyKonarikova, E.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyRepp, B.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyKastenmueller, G.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Bioinformat & Syst Biol, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyAdamski, J.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Expt Genet, Genome Anal Ctr, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyLichtner, P.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyLeonhardt, C.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany论文数: 引用数: h-index:机构:Donati, A.论文数: 0 引用数: 0 h-index: 0机构: A Meyer Childrens Hosp, Metab Unit, Florence, Italy Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyTiranti, V.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ist Ricovero & Cura Carettere Sci, Neurol Inst Carlo Besta, Unit Mol Neurogenet, Milan, Italy Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyLombes, A.论文数: 0 引用数: 0 h-index: 0机构: Inst Cochin, INSERM, UMR 1016, Paris, France Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyJardel, C.论文数: 0 引用数: 0 h-index: 0机构: Inst Cochin, INSERM, UMR 1016, Paris, France Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyGlaeser, D.论文数: 0 引用数: 0 h-index: 0机构: Genetikum, Genet Counseling & Diagnost, Neu Ulm, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyTaylor, R. 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M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyMeitinger, T.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyGagneur, J.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Computat Biol, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, GermanyProkisch, H.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Muenchen, Inst Human Genet, Neuherberg, Germany
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