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- [1] The genetic aetiology of Silver-Russell syndrome[J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (04) : 193 - 199Abu-Amero, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, EnglandMonk, D.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, EnglandFrost, J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, EnglandPreece, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, EnglandStanier, P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, EnglandMoore, G. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London WC1N 1EH, England UCL, Inst Child Hlth, London WC1N 1EH, England
- [2] Myoclonus-dystonia syndrome associated with Russell Silver syndrome[J]. MOVEMENT DISORDERS, 2013, 28 (06) : 841 - 842Augustine, Erika F.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USABlackburn, Joanna论文数: 0 引用数: 0 h-index: 0机构: Northwestern Univ, Dept Pediat, Ann & Robert H Lurie Childrens Hosp Chicago, Div Neurol,Feinberg Sch Med, Chicago, IL 60611 USA Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USAPellegrino, Joan E.论文数: 0 引用数: 0 h-index: 0机构: SUNY Upstate Med Univ, Ctr Dev Behav & Genet, Dept Pediat, Syracuse, NY 13210 USA Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USAMiller, Ryan论文数: 0 引用数: 0 h-index: 0机构: SUNY Upstate Med Univ, Ctr Dev Behav & Genet, Dept Pediat, Syracuse, NY 13210 USA Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USAMink, Jonathan W.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Div Child Neurol, Rochester, NY 14642 USA
- [3] The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (02) : 138 - 144Grabowski, M论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyZimprich, A论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyLorenz-Depiereux, B论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyKalscheuer, V论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyAsmus, F论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyGasser, T论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyMeitinger, T论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, GermanyStrom, TM论文数: 0 引用数: 0 h-index: 0机构: GSF Natl Res Ctr, Inst Human Genet, D-85764 Neuherberg, Germany
- [4] Myoclonus-dystonia due to maternal uniparental disomy[J]. ARCHIVES OF NEUROLOGY, 2008, 65 (10) : 1380 - 1385Guettard, Emilie论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FrancePortnoi, Marie-France论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Lab Cytognet, AP HP, F-75571 Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceLohmann-Hedrich, Katja论文数: 0 引用数: 0 h-index: 0机构: Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Serv Genet, AP HP, Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceRossignol, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Hop Armand Trousseau, AP HP, Serv Explorat Fonctionnelles Endocriniennes, Paris, France Univ Paris 06, INSERM, U515, Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceWinkler, Susen论文数: 0 引用数: 0 h-index: 0机构: Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceEl Kamel, Imen论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Lab Cytognet, AP HP, F-75571 Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceLeu, Smaranda论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceApartis, Emmanuelle论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Serv Neurophysiol, AP HP, F-75571 Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceVidailhet, Marie论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceKlein, Christine论文数: 0 引用数: 0 h-index: 0机构: Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, FranceRoze, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, France Univ Paris 06, CNRS, UMR 7102, Paris, France Hop St Antoine, Serv Neurol, AP HP, F-75571 Paris, France
- [5] Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment[J]. CURRENT OPINION IN NEUROLOGY, 2018, 31 (04) : 484 - 490Roze, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Fac Med, Paris, France CNRS, UMR 7225, UMR S 1127, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, APHP, Dept Neurol, Paris, France Sorbonne Univ, Fac Med, Paris, FranceLang, Anthony E.论文数: 0 引用数: 0 h-index: 0机构: Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Toronto, ON, Canada Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada Univ Toronto, Toronto, ON, Canada Sorbonne Univ, Fac Med, Paris, FranceVidailhet, Marie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Fac Med, Paris, France CNRS, UMR 7225, UMR S 1127, Inst Cerveau & Moelle Epiniere, Paris, France Hop La Pitie Salpetriere, APHP, Dept Neurol, Paris, France Sorbonne Univ, Fac Med, Paris, France
- [6] Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7[J]. CLINICAL GENETICS, 2013, 84 (04) : 368 - 372Sheridan, M. B.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USATelegrafi, A. Bytyci论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USAStinnett, V.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Cytogenet & Microarray Lab, Baltimore, MD USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USAUmeh, C. C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USAMari, Z.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USADawson, T. M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Neuroregenerat Program, Inst Cell Engn, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USABodurtha, J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USABatista, D. A. S.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA Kennedy Krieger Inst, Cytogenet & Microarray Lab, Baltimore, MD USA Johns Hopkins Univ, Dept Pathol, Baltimore, MD 21287 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21287 USA
- [7] Atypical Silver-Russell Phenotype Resulting From Maternal Uniparental Disomy of Chromosome 7[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) : 2342 - 2345Stark, Zornitza论文数: 0 引用数: 0 h-index: 0机构: Genet Hlth Serv Victoria, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia Genet Hlth Serv Victoria, Melbourne, Vic, AustraliaRyan, Monique M.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Childrens Neurosci Ctr, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Genet Hlth Serv Victoria, Melbourne, Vic, AustraliaBruno, Damien L.论文数: 0 引用数: 0 h-index: 0机构: Genet Hlth Serv Victoria, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia Genet Hlth Serv Victoria, Melbourne, Vic, AustraliaBurgess, Trent论文数: 0 引用数: 0 h-index: 0机构: Genet Hlth Serv Victoria, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia Genet Hlth Serv Victoria, Melbourne, Vic, AustraliaSavarirayan, Ravi论文数: 0 引用数: 0 h-index: 0机构: Genet Hlth Serv Victoria, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Genet Hlth Serv Victoria, Melbourne, Vic, Australia
- [8] Epigenoty-pephenotype correlations in Silver-Russell syndrome[J]. JOURNAL OF MEDICAL GENETICS, 2010, 47 (11) : 760 - 768Wakeling, E. L.论文数: 0 引用数: 0 h-index: 0机构: NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandAbu Amero, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandAlders, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England论文数: 引用数: h-index:机构:Forsythe, E.论文数: 0 引用数: 0 h-index: 0机构: NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandKumar, S.论文数: 0 引用数: 0 h-index: 0机构: NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandLim, D. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham, W Midlands, England Birmingham Womens Hosp, W Midlands Genet Serv, Birmingham, W Midlands, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandMacDonald, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Coll Med & Dent Sci, Sch Clin & Expt Med, Dept Med & Mol Genet, Birmingham, W Midlands, England Birmingham Womens Hosp, W Midlands Genet Serv, Birmingham, W Midlands, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandMackay, D. J.论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Sch Med, Div Human Genet, Southampton, Hants, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandMaher, E. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Ctr Rare Dis & Personalised Med, Birmingham, W Midlands, England Birmingham Womens Hosp, W Midlands Genet Serv, Birmingham, W Midlands, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandMoore, G. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, London, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandPoole, R. L.论文数: 0 引用数: 0 h-index: 0机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Southampton, Sch Med, Div Human Genet, Southampton, Hants, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandPrice, S. M.论文数: 0 引用数: 0 h-index: 0机构: Northampton Gen Hosp, Dept Clin Genet, Northampton, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England论文数: 引用数: h-index:机构:Turner, C. L. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Sch Med, Div Human Genet, Southampton, Hants, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandVan Haelst, M. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandWilloughby, C.论文数: 0 引用数: 0 h-index: 0机构: St George Hosp, DNA Lab, Med Genet Unit, London, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandTemple, I. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Sch Med, Div Human Genet, Southampton, Hants, England Southampton Univ Hosp Trust, Wessex Clin Genet Serv, Southampton, Hants, England NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, EnglandCobben, J. M.论文数: 0 引用数: 0 h-index: 0机构: Emma Kinderziekenhuis AMC, Dept Pediat Genet, Amsterdam, Netherlands NW London Hosp NHS Trust, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
- [9] Diagnosis and management of Silver-Russell syndrome: first international consensus statement[J]. NATURE REVIEWS ENDOCRINOLOGY, 2017, 13 (02) : 105 - 124Wakeling, Emma L.论文数: 0 引用数: 0 h-index: 0机构: London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandBrioude, Frederic论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants Armand Trousseau, AP HP, Hop Univ Paris Est, Serv Explorat Fonct Endocriniennes, 26 Ave Dr Arnold Netter, F-75012 Paris, France INSERM, UMR S938, Ctr Rech St Antoine, 34 Rue Crozatier, F-75012 Paris, France UPMC Univ Paris 06, Sorbonne Univ, 4 Pl Jussieu, F-75005 Paris, France London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandLokulo-Sodipe, Oluwakemi论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO17 1BJ, Hants, England Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 6YD, Hants, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandO'Connell, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Cork Univ Hosp, Dept Paediat & Child Hlth, Cork T12 DC4A, Cork, Ireland London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandSalem, Jennifer论文数: 0 引用数: 0 h-index: 0机构: MAGIC Fdn, 6645 W North Ave, Oak Pk, IL 60302 USA London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandBliek, Jet论文数: 0 引用数: 0 h-index: 0机构: Acad Med Ctr, Dept Clin Genet, Lab Genome Diagnost, Meibergdreef 15, NL-1105 AZ Amsterdam, Netherlands London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandCanton, Ana P. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Lab Endocrinol Celular & Mol LIM 25, Unidade Endocrinol Genet,Disciplina Endocrinol, Av Dr Arnaldo,455 5 Andar Sala 5340 LIM25, BR-01246000 Sao Paulo, SP, Brazil London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandChrzanowska, Krystyna H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mem Hlth Inst, Dept Med Genet, Al Dzieci Polsk 20, PL-04730 Warsaw, Poland London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandDavies, Justin H.论文数: 0 引用数: 0 h-index: 0机构: Southampton Univ Hosp, Dept Paediat Endocrinol, Tremona Rd, Southampton SO16 6YD, Hants, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandDias, Renuka P.论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Inst Metab & Syst Res, Vincent Dr, Birmingham B15 2TT, W Midlands, England Birmingham Hlth Partners, Ctr Endocrinol Diabet & Metab, Vincent Dr, Birmingham B15 2TH, W Midlands, England Birmingham Childrens Hosp NHS Fdn Trust, Dept Paediat Endocrinol & Diabet, Steelhouse Lane, Birmingham B4 6NH, W Midlands, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandDubern, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants Armand Trousseau, Hop Univ Paris Est, AP HP, Dept Gastroenterol & Nutr, 26 Ave Dr Arnold Netter, F-75012 Paris, France UPMC, Trousseau Hosp, AP HP, HUEP, F-75012 Paris, France London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandElbracht, Miriam论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Insitute Human Genet, Pauwelsstr 30, D-52074 Aachen, Germany London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandGiabicani, Eloise论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants Armand Trousseau, AP HP, Hop Univ Paris Est, Serv Explorat Fonct Endocriniennes, 26 Ave Dr Arnold Netter, F-75012 Paris, France INSERM, UMR S938, Ctr Rech St Antoine, 34 Rue Crozatier, F-75012 Paris, France UPMC Univ Paris 06, Sorbonne Univ, 4 Pl Jussieu, F-75005 Paris, France London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandGrimberg, Adda论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, 3401 Civ Ctr Blvd,Suite 11NW30, Philadelphia, PA 19104 USA London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandGronskov, Karen论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Appl Human Mol Genet,Kennedy Ctr, Gl Landevej 7, DK-2600 Copenhagen, Denmark London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandHokken-Koelega, Anita C. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Pediat, Subdiv Endocrinol, Wytemaweg 80, NL-3015 CN Rotterdam, Netherlands London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandJorge, Alexander A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Lab Endocrinol Celular & Mol LIM 25, Unidade Endocrinol Genet,Disciplina Endocrinol, Av Dr Arnaldo,455 5 Andar Sala 5340 LIM25, BR-01246000 Sao Paulo, SP, Brazil London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandKagami, Masayo论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Setagaya Ku, 2-10-1 Ohkura, Tokyo 1578535, Japan London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandLinglart, Agnes论文数: 0 引用数: 0 h-index: 0机构: Hosp Bicetre Paris Sud, AP HP, Dept Pediat Endocrinol, Reference Ctr Rare Disorders Mineral Metab & Plat, 78 Rue Gen Leclerc, F-94270 Le Kremlin Bicetre, France London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandMaghnie, Mohamad论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, IRCCS Ist Giannina Gaslini, Via Gerolamo Gaslini 5, I-16147 Genoa, Italy London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandMohnike, Klaus论文数: 0 引用数: 0 h-index: 0机构: Otto von Guericke Univ, Dept Pediat, Leipziger St 44, D-39120 Magdeburg, Germany London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandMonk, David论文数: 0 引用数: 0 h-index: 0机构: Hosp Duran & Reynals, Bellvitge Biomed Res Inst, Canc Epigenet & Biol Program, Imprinting & Canc Grp, Gran Via 199-203, Barcelona 08908, Spain London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandMoore, Gudrun E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Fetal Growth & Dev Grp, 30 Guilford St, London WC1N 1EH, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandMurray, Philip G.论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Inst Human Dev, Ctr Paediat & Child Hlth, Oxford Rd, Manchester M13 9WL, Lancs, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandOgata, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Pediat, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandPetit, Isabelle Oliver论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Bone Dis & Gynecol Unit, Pediat Endocrinol, TSA 70034, F-31059 Toulouse, France London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandRusso, Silvia论文数: 0 引用数: 0 h-index: 0机构: Inst Auxol Italiano, Cytogenet & Mol Genet Lab, Via Ariosto 13, I-20145 Milan, Italy London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandSaid, Edith论文数: 0 引用数: 0 h-index: 0机构: Univ Malta, Fac Med & Surg, Ctr Mol Med & Biobanking, Dept Anat & Cell Biol, MSD-2090 Msida, Malta Mater Dei Hosp, Dept Pathol, Med Genet Sect, MSD-2090 Msida, Malta London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandToumba, Meropi论文数: 0 引用数: 0 h-index: 0机构: IASIS Hosp, 8 Voriou Ipirou, CY-8036 Paphos, Cyprus Cyprus Inst Neurol & Genet, Nicosia, Cyprus London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandTumer, Zeynep论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Appl Human Mol Genet,Kennedy Ctr, Gl Landevej 7, DK-2600 Copenhagen, Denmark London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandBinder, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Pediat Endocrinol, Hoppe Seyler Str 1, D-72070 Tubingen, Germany London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandEggermann, Thomas论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Insitute Human Genet, Pauwelsstr 30, D-52074 Aachen, Germany London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandHarbison, Madeleine D.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, 5 98th St 1192, New York, NY 10029 USA London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandTemple, I. Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO17 1BJ, Hants, England Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 6YD, Hants, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandMackay, Deborah J. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Human Dev & Hlth, Southampton SO17 1BJ, Hants, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, EnglandNetchine, Irene论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants Armand Trousseau, AP HP, Hop Univ Paris Est, Serv Explorat Fonct Endocriniennes, 26 Ave Dr Arnold Netter, F-75012 Paris, France INSERM, UMR S938, Ctr Rech St Antoine, 34 Rue Crozatier, F-75012 Paris, France UPMC Univ Paris 06, Sorbonne Univ, 4 Pl Jussieu, F-75005 Paris, France London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, England
- [10] Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome[J]. NATURE GENETICS, 2001, 29 (01) : 66 - 69Zimprich, A论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyGrabowski, M论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyAsmus, F论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyNaumann, M论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyBerg, D论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyBertram, M论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyScheidtmann, K论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyKern, P论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyWinkelmann, F论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyMüller-Myhsok, B论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyRiedel, L论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyBauer, M论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyMüller, T论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyCastro, M论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyMeitinger, T论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyStrom, TM论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, GermanyGasser, T论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, Germany Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, Germany