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- [32] MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosumEuropean Journal of Medical Genetics, 2016, 59 (08) : 386 - 391Bader, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, Austria Tech Univ Munich, Kbo Kinderzentrum, D-80290 Munich, Germany Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaDecker, E.论文数: 0 引用数: 0 h-index: 0机构: Bioscientia, Ctr Human Genet, Ingelheim, Germany Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaMayr, J. A.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Childrens Hosp, Salzburg, Austria Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaLunzer, V.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Childrens Hosp, Salzburg, Austria Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaKoch, J.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Childrens Hosp, Salzburg, Austria Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaBoltshauser, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Zurich, Switzerland Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaSperl, W.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Childrens Hosp, Salzburg, Austria Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaPietsch, P.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Kbo Kinderzentrum, D-80290 Munich, Germany Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaErtl-Wagner, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Inst Clin Radiol, D-81377 Munich, Germany Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaBolz, H.论文数: 0 引用数: 0 h-index: 0机构: Bioscientia, Ctr Human Genet, Ingelheim, Germany Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaBergmann, C.论文数: 0 引用数: 0 h-index: 0机构: Bioscientia, Ctr Human Genet, Ingelheim, Germany Childrens Univ Hosp, Zurich, Switzerland Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, AustriaRittinger, O.论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, Austria Paracelsus Med Univ, Childrens Hosp, Clin Genet Unit, Salzburg, Austria
- [33] De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesHuman Genetics, 2018, 137 : 401 - 411Daniel Fritzen论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsAlma Kuechler论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsMona Grimmel论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsJessica Becker论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsSophia Peters论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsMarc Sturm论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsHela Hundertmark论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsAxel Schmidt论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsMartina Kreiß论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsTim M. Strom论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsDagmar Wieczorek论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsTobias B. Haack论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsStefanie Beck-Wödl论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsKirsten Cremer论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsHartmut Engels论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human Genetics
- [34] De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (01) : 144 - 153Ito, Yoko论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaCarss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaDuarte, Sofia T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Cent, Hosp Dona Estefania, P-1169045 Lisbon, Portugal Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaHartley, Taila论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, F-75651 Paris, France Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, Dev Neurosci, London WC1N 1EH, England Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaMarey, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, F-75651 Paris, France Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaCharles, Perinne论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75651 Paris, France Hop La Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, F-75651 Paris, France Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Pfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Donders Inst Brain Cognit & Behav, Dept Human Genet, Box 9101, NL-6500 HB Nijmegen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaSanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canadavan Bokhoven, Hans论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Donders Inst Brain Cognit & Behav, Dept Human Genet, Box 9101, NL-6500 HB Nijmegen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canadavan Essen, Anthony论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, POB 30-001, NL-9700 RB Groningen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canadavan Ravenswaaij-Arts, Conny论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, POB 30-001, NL-9700 RB Groningen, Netherlands Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaBoycott, Kym M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaKernohan, Kristin D.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaDyack, Sarah论文数: 0 引用数: 0 h-index: 0机构: Dalhousie Univ, Dept Pediat, Halifax, NS B3K 6R8, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, CanadaRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada
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- [36] Mutations of ARX and non-syndromic intellectual disability in Chinese populationGenes & Genomics, 2019, 41 : 125 - 131Yufei Wu论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthHuan Zhang论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthXiaofen Liu论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthZhangyan Shi论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthHongling Li论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthZhibin Wang论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthXiaoyong Jie论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthShaoping Huang论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthFuchang Zhang论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthJunlin Li论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthKejin Zhang论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and HealthXiaocai Gao论文数: 0 引用数: 0 h-index: 0机构: Northwest University,Key Laboratory of Resource Biology and Biotechnology in Western China (Ministry of Education), Institute of Population and Health
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- [39] De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesHUMAN GENETICS, 2018, 137 (05) : 401 - 411Fritzen, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyKuechler, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45147 Essen, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyGrimmel, Mona论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Calwerstr 7, D-72076 Tubingen, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyBecker, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyPeters, Sophia论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanySturm, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Calwerstr 7, D-72076 Tubingen, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyHundertmark, Hela论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanySchmidt, Axel论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyKreiss, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Ingolstaedter Landstr 1, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45147 Essen, Germany Heinrich Heine Univ, Med Fac, Inst Human Genet, Univ Str 1, D-40225 Dusseldorf, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Calwerstr 7, D-72076 Tubingen, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyBeck-Woedl, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Calwerstr 7, D-72076 Tubingen, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyCremer, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Hosp Bonn, Sigmund Freud Str 25, D-53127 Bonn, Germany Univ Bonn, Sch Med, Inst Human Genet, Sigmund Freud Str 25, D-53127 Bonn, Germany
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Billette论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Serv Neuropediat, Paris, France UPMC, GRC ConCer LD, Paris, France INSERM, U1141, Paris, France GH Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet,UF Genet Med, Paris, FranceNava, C.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, UF Genom Dev, Paris, France UPMC, ICM, INSERM, UMR S975,CNRS,UMR 7225, Paris, France GH Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet,UF Genet Med, Paris, FranceRastetter, A.论文数: 0 引用数: 0 h-index: 0机构: UPMC, ICM, INSERM, UMR S975,CNRS,UMR 7225, Paris, France GH Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet,UF Genet Med, Paris, FranceMignot, C.论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles Causes, Dept Genet,UF Genet Med, Paris, France GH Pitie Salpetriere, AP HP, Ctr Reference Deficiences Intellectuelles 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