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- [43] Lethal neonatal epileptic encephalopathy with lissencephaly and agenesis of the corpus callosum caused by a novel mutation of the ARX-geneEPILEPSIA, 2007, 48 : 10 - 10Schmitt-Mechelke, T.论文数: 0 引用数: 0 h-index: 0机构: Pediat Clin, Luzern, SwitzerlandBartholdi, D.论文数: 0 引用数: 0 h-index: 0机构: Pediat Clin, Luzern, SwitzerlandTouraine, R.论文数: 0 引用数: 0 h-index: 0机构: Pediat Clin, Luzern, Switzerland
- [44] A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphismBRAIN & DEVELOPMENT, 2020, 42 (10): : 771 - 774Yi, Xiaoli论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R China Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R ChinaYuan, Xinyu论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R China Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R ChinaXie, Hua论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing Municipal Key Lab Child Dev & Nutri, Beijing 100020, Peoples R China Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R ChinaChen, Xiaoli论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Med Genet, Beijing Municipal Key Lab Child Dev & Nutri, Beijing 100020, Peoples R China Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R ChinaZhu, Yanli论文数: 0 引用数: 0 h-index: 0机构: Capital Inst Pediat, Dept Neurol, 2 Ya Bao Rd, Beijing 100020, Peoples R China Capital Inst Pediat, Dept Radiol, Beijing 100020, Peoples R China
- [45] Lethal neonatal epileptic encephalopathy with lissencephaly and agenesis of the corpus callosum caused by a novel mutation of the ARX-geneSWISS MEDICAL WEEKLY, 2007, 137 : 21S - 21SSchmitt-Mechelke, T.论文数: 0 引用数: 0 h-index: 0机构: Genet Mol Lab, St Etienne, France Genet Mol Lab, St Etienne, FranceBartholdi, D.论文数: 0 引用数: 0 h-index: 0机构: Genet Mol Lab, St Etienne, France Genet Mol Lab, St Etienne, FranceTouraine, R.论文数: 0 引用数: 0 h-index: 0机构: Genet Mol Lab, St Etienne, France Genet Mol Lab, St Etienne, France
- [46] Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetranceEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 110 - 111Marsh, A. P. L.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaHeron, D.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaEdwards, T. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaQuartier, A.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaRastetter, A.论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Inst Cerveau & Moelle Epiniere, Sorbonne Univ, INSERM,U1127,CNRS,UMR 7225,UMR S 1127, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, Australia论文数: 引用数: h-index:机构:Heide, S.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaKeren, B.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaMignot, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaGarel, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Serv Radiol, GHUEP, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaFaudet, A.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, Australia论文数: 引用数: h-index:机构:Mcgillivray, G.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaMandelstam, S. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaOdent, S.论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Clin, Ctr Reference CLAD Ouest, Rennes, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaBahlo, M.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Vic, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaMandel, J.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaPiton, A.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaMeneret, A.论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Inst Cerveau & Moelle Epiniere, Sorbonne Univ, INSERM,U1127,CNRS,UMR 7225,UMR S 1127, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaRoze, E.论文数: 0 引用数: 0 h-index: 0机构: UPMC Univ Paris 06, Inst Cerveau & Moelle Epiniere, Sorbonne Univ, INSERM,U1127,CNRS,UMR 7225,UMR S 1127, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaMoutard, M.论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, AP HP, Serv Neuropediat, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaBillette, T.论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, AP HP, Serv Neuropediat, Paris, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaSherr, E. H.论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp, Dept Neurol, San Francisco, CA USA Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaLeventer, R. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, Australia论文数: 引用数: h-index:机构:Lockhart, P. J.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaDepienne, C.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France UPMC Univ Paris 06, Inst Cerveau & Moelle Epiniere, Sorbonne Univ, INSERM,U1127,CNRS,UMR 7225,UMR S 1127, Paris, France Hop Univ Strasbourg, Strasbourg, France Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Murdoch Childrens Res Inst, Parkville, Vic, Australia
- [47] Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual DisabilityAMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (03) : 306 - 316Hamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaAraki, Yoichi论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaLin, Da-Ting论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaYoshizawa, Yuhki论文数: 0 引用数: 0 h-index: 0机构: Chiba Univ, Grad Sch Pharmaceut Sci, Chiba 2608675, Japan Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaHigashi, Kyohei论文数: 0 引用数: 0 h-index: 0机构: Chiba Univ, Grad Sch Pharmaceut Sci, Chiba 2608675, Japan Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaPark, A-Reum论文数: 0 引用数: 0 h-index: 0机构: Korea Res Inst Biosci & Biotechnol, Taejon 305806, South Korea Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaSpiegelman, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaDobrzeniecka, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaPiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaTomitori, Hideyuki论文数: 0 引用数: 0 h-index: 0机构: Chiba Univ, Grad Sch Pharmaceut Sci, Chiba 2608675, Japan Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaDaoud, Hussein论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaMassicotte, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaHenrion, Edouard论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaDiallo, Ousmane论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaShekarabi, Masoud论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaMarineau, Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaShevell, Michael论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Dept Neurol & Neurosurg, Montreal, PQ H3H 1P3, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaMaranda, Bruno论文数: 0 引用数: 0 h-index: 0机构: CHU Laval, Dept Pediat, Quebec City, PQ G1V 4G2, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaMitchell, Grant论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaNadeau, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaD'Anjou, Guy论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaVanasse, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaSrour, Myriam论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaLafreniere, Ronald G.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaDrapeau, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pathol & Cell Biol, Montreal, PQ H3C 3J7, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaLacaille, Jean Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Grp Rech Syst Nerveux Cent, Dept Physiol, Montreal, PQ H3C 3J7, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaKim, Eunjoon论文数: 0 引用数: 0 h-index: 0机构: Korea Adv Inst Sci & Technol, Dept Biol Sci, Taejon 305701, South Korea Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaLee, Jae-Ran论文数: 0 引用数: 0 h-index: 0机构: Korea Res Inst Biosci & Biotechnol, Taejon 305806, South Korea Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaIgarashi, Kazuei论文数: 0 引用数: 0 h-index: 0机构: Chiba Univ, Grad Sch Pharmaceut Sci, Chiba 2608675, Japan Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaHuganir, Richard L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Hosp Univ Montreal Res Ctr, Ctr Excellence Neur, Montreal, PQ H2L2W5, Canada Univ Montreal, Dept Med, Montreal, PQ H2L2W5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada Univ Montreal, St Justine Hosp Res Ctr, Ctr Excellence Neur, Montreal, PQ H3T 1C5, Canada
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