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- [41] Connectome Analysis in an Individual with SETD1B-Related Neurodevelopmental Disorder and EpilepsyJOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, 2022, 43 (06): : E419 - E422Weng, Rosa论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria论文数: 引用数: h-index:机构:Schwarz, Michelle论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, AustriaRiedhammer, Korbinian M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Sch Med, Dept Nephrol, Klinikum Rechts Isar, Munich, Germany Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, AustriaBrunet, Theresa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, AustriaWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Sch Med, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogen, Neuherberg, Germany Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, AustriaKasprian, Gregor论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Biomed Imaging & Image Guided Therapy, Vienna, Austria Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria论文数: 引用数: h-index:机构:Zimprich, Fritz论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, AustriaBonelli, Silvia B.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria Med Univ Vienna, Dept Neurol, Wahringer Gurtel 18-20, A-1090 Vienna, Austria论文数: 引用数: h-index:机构:
- [42] Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsyHUMAN MUTATION, 2021, 42 (10) : 1215 - 1220Marce-Grau, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainElorza-Vidal, Xabier论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, IDIBELL Inst Neurosci, Genes Dis & Therapy Program, Dept Physiol Sci,Physiol Unit, Lhospitalet De Llobregat, Spain ISCIII, Rare Dis Network Res Ctr CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainPerez-Rius, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, IDIBELL Inst Neurosci, Genes Dis & Therapy Program, Dept Physiol Sci,Physiol Unit, Lhospitalet De Llobregat, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainRuiz-Nello, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Parc Tauli Hosp Univ, UDIAT Ctr Diagnost, Inst Invest & Innovacio Parc Tauli I3PT,Genet Lab, Sabadell, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainSala-Coromina, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainGabau, Elisabet论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Invest & Innovacio Parc Tauli I3PT, Parc Tauli Hosp Univ, Paediat Unit, Sabadell, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainEstevez, Raul论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, IDIBELL Inst Neurosci, Genes Dis & Therapy Program, Dept Physiol Sci,Physiol Unit, Lhospitalet De Llobregat, Spain ISCIII, Rare Dis Network Res Ctr CIBERER, Madrid, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, SpainMacaya, Alfons论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain Univ Autonoma Barcelona, Inst Neurosci, Bellaterra, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain
- [43] Monoallelic CRMP1 gene variants cause neurodevelopmental disorderELIFE, 2022, 11Ravindran, Ethiraj论文数: 0 引用数: 0 h-index: 0机构: Charite Univ med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ med Berlin, Ctr Chron Sick Children, Berlin, Germany Charite Univ med Berlin, Inst Cell Biol & Neurobiol, Berlin, Germany Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyArashiki, Nobuto论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Biochem, Tokyo, Japan Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyBecker, Lena-Luise论文数: 0 引用数: 0 h-index: 0机构: Charite Univ med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ med Berlin, Ctr Chron Sick Children, Berlin, Germany Charite Univ med Berlin, Inst Cell Biol & Neurobiol, Berlin, Germany Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyTakizawa, Kohtaro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Biochem, Tokyo, Japan Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyLevy, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Univ Hosp, Dept Genet, Paris, France Lab Biol medicale multis Seqoia, Paris, France Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyRambaud, Thomas论文数: 0 引用数: 0 h-index: 0机构: Lab Biol medicale multis Seqoia, Paris, France Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyMakridis, Konstantin L.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ med Berlin, Ctr Chron Sick Children, Berlin, Germany Charite Univ med Berlin, Inst Cell Biol & Neurobiol, Berlin, Germany Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyGoshima, Yoshio论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Mol Pharmacol & Neurobiol, Yokohama, Japan Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyLi, Na论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Lab Med Syst Biol, Guangzhou, Peoples R China Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyVreeburg, Maaike论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Clin Genet, Med Ctr, Maastricht, Netherlands Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyDemeer, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet, CLAD Nord France, Amiens, Picardie, France Univ Picardie Jules Verne, CHIMERE EA 7516, Amiens, France Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyDickmanns, Achim论文数: 0 引用数: 0 h-index: 0机构: Georg August Univ Gottingen, Inst Microbiol & Genet, Dept Mol Struct Biol, Gottingen, Germany Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Clin Genet, Med Ctr, Maastricht, Netherlands Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyHu, Hao论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Lab Med Syst Biol, Guangzhou, Peoples R China Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyNakamura, Fumio论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Dept Biochem, Tokyo, Japan Charite Univ med Berlin, Dept Pediat Neurol, Berlin, GermanyKaindl, Angela M.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ med Berlin, Ctr Chron Sick Children, Berlin, Germany Charite Univ med Berlin, Inst Cell Biol & Neurobiol, Berlin, Germany Charite Univ med Berlin, Dept Pediat Neurol, Berlin, Germany
- [44] INVESTIGATING THE FUNCTION OF THE NEURODEVELOPMENTAL DISORDER RISK GENE DYRK1AJOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2020, 59 (10): : S314 - S314Willsey, Helen论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif San Francisco, San Francisco, CA 94143 USA
- [45] Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyJOURNAL OF MEDICAL GENETICS, 2016, 53 (08) : 511 - 522Mignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, Francevon Stuelpnagel, Celina论文数: 0 引用数: 0 h-index: 0机构: Hosp Neuropediat & Neurol Rehabil, Epilepsy Ctr Children & Adolescents, Vogtareuth, Germany Paracelsus Med Univ Salzburg, Salzburg, Austria Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France论文数: 引用数: h-index:机构:Ville, Dorothee论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Hop Femme Mere Enfant, Serv Neurol Pediat, Bron, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceSanlaville, Damien论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Genet, Bron, France Univ Lyon 1, Villeurbanne, France CRNL, CNRS UMR 5292, INSERM U1028, Batiment IMBL, Villeurbanne, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Grp Hosp Est, Serv Genet, Bron, France Univ Lyon 1, Villeurbanne, France CRNL, CNRS UMR 5292, INSERM U1028, Batiment IMBL, Villeurbanne, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceRastetter, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Sorbonne Univ, UMR S 1127, CNRS UMR 7225,ICM, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceGachet, Benoit论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Sorbonne Univ, UMR S 1127, CNRS UMR 7225,ICM, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMarie, Yannick论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Sorbonne Univ, UMR S 1127, CNRS UMR 7225,ICM, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceKorenke, G. Christoph论文数: 0 引用数: 0 h-index: 0机构: Klinikum Oldenburg, Zentrum Kinder & Jugendmed Elisabeth Kinderkranke, Klin Neuropediat U Angeborene Stoffwechselerkrank, Oldenburg, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceBorggraefe, Ingo论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Pediat Neurol & Dev Med, Munich, Germany Univ Munich, Epilepsy Ctr, Munich, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceHoffmann-Zacharska, Dorota论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceSzczepanik, Elzbieta论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Clin Neurol Children & Adolescents, Warsaw, Poland Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceRudzka-Dybala, Mariola论文数: 0 引用数: 0 h-index: 0机构: Inst Mother & Child Hlth, Clin Neurol Children & Adolescents, Warsaw, Poland Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceYis, Uluc论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Pediat, Div Child Neurol, Izmir, Turkey Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceCaglayan, Hande论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Dept Mol Biol & Genet Istanbul, Istanbul, Turkey Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceIsapof, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, AP HP, Serv Neuropediat, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMarey, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FrancePanagiotakaki, Eleni论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lyon HCL, Epilepsy Sleep & Pediat Neurophysiol Dept ESEFNP, Lyon, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceKorff, Christian论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Geneve, Dept Enfant & Adolescent, Neuropediat, Geneva, Switzerland Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceRossier, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Tubingen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceRiess, Angelika论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceBeck-Woedl, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France论文数: 引用数: h-index:机构:Zweier, Christiane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceHoyer, Juliane论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceReis, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMironov, Mikhail论文数: 0 引用数: 0 h-index: 0机构: Svt Lukas Inst Child Neurol & Epilepsy, Moscow, Russia Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceBobylova, Maria论文数: 0 引用数: 0 h-index: 0机构: Svt Lukas Inst Child Neurol & Epilepsy, Moscow, Russia Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMukhin, Konstantin论文数: 0 引用数: 0 h-index: 0机构: Svt Lukas Inst Child Neurol & Epilepsy, Moscow, Russia Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceHernandez-Hernandez, Laura论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London, England Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMaher, Bridget论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London, England Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceSisodiya, Sanjay论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London, England Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceKuhn, Marius论文数: 0 引用数: 0 h-index: 0机构: Genetikum, Neu Ulm, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceGlaeser, Dieter论文数: 0 引用数: 0 h-index: 0机构: Genetikum, Neu Ulm, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceWechuysen, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Sorbonne Univ, UMR S 1127, CNRS UMR 7225,ICM, Paris, France VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMyers, Candace T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceMefford, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceHoertnagel, Konstanze论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceBiskup, Saskia论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Tubingen, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Leipzig, Inst Humangenet, Leipzig, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France Ctr Reference Deficiences Intellectuelles Causes, Paris, France UPMC, Grp Rech Clin GRC Deficience Intellectuelle & Aut, Paris, France Hosp Neuropediat & Neurol Rehabil, Epilepsy Ctr Children & Adolescents, Vogtareuth, Germany Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceKluger, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Hosp Neuropediat & Neurol Rehabil, Epilepsy Ctr Children & Adolescents, Vogtareuth, Germany Paracelsus Med Univ Salzburg, Salzburg, Austria Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, FranceDepienne, Christel论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France Univ Paris 06, Sorbonne Univ, UMR S 1127, CNRS UMR 7225,ICM, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France
- [46] A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and EpilepsyBIOMEDICINES, 2022, 10 (12)Vaz, Raquel论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenWincent, Josephine论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenElfissi, Najla论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Med Biochem & Biophys, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenRosengren Forsblad, Kristina论文数: 0 引用数: 0 h-index: 0机构: Akadem Sjukhuset, S-75185 Uppsala, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenPettersson, Maria论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenNaess, Karin论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Ctr Inherited Metab Dis, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenWedell, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden论文数: 引用数: h-index:机构:Lindstrand, Anna论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, SwedenYgberg, Sofia论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Med Biochem & Biophys, S-17177 Stockholm, Sweden Karolinska Univ Hosp, Ctr Inherited Metab Dis, S-17177 Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17177 Stockholm, Sweden
- [47] The rare case of a patient with neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum and a homozygous LNPK gene mutationEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 512 - 512Anastasiou, Ouranio论文数: 0 引用数: 0 h-index: 0机构: Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, CyprusMiltiadous, Andri论文数: 0 引用数: 0 h-index: 0机构: Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, CyprusGerasimou, Petroula论文数: 0 引用数: 0 h-index: 0机构: Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, CyprusKyprianou, Yiannos论文数: 0 引用数: 0 h-index: 0机构: Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, CyprusChi, Jason论文数: 0 引用数: 0 h-index: 0机构: Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, CyprusCosteas, Paul论文数: 0 引用数: 0 h-index: 0机构: Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, CyprusAnastasiadou, Violetta Christofidou论文数: 0 引用数: 0 h-index: 0机构: Archbishop Makarios III Childrens Hosp, Clin Genet, Nicosia, Cyprus Karaiskakio Fdn, Mol Genet, Nicosia, Cyprus
- [48] Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorderMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (11):Schultz-Rogers, Laura论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAMasuho, Ikuo论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAVairo, Filippo Pinto e论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USASchmitz, Christopher T.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Biochem & Mol Biol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USASchwab, Tanya L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Biochem & Mol Biol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAClark, Karl J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Biochem & Mol Biol, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAGunderson, Lauren论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAPichurin, Pavel N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAWierenga, Klaas论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Med Genet, Jacksonville, FL 32224 USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAMartemyanov, Kirill A.论文数: 0 引用数: 0 h-index: 0机构: Scripps Res Inst, Dept Neurosci, Jupiter, FL USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USAKlee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA
- [49] LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderHUMAN GENETICS AND GENOMICS ADVANCES, 2024, 5 (04):Chettle, James论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Oncol, Oxford, England Univ Oxford, Dept Oncol, Oxford, EnglandLouie, Raymond J.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Univ Oxford, Dept Oncol, Oxford, EnglandLarner, Olivia论文数: 0 引用数: 0 h-index: 0机构: Univ South Carolina, Sch Med Greenville, Greenville, SC USA Univ Oxford, Dept Oncol, Oxford, England论文数: 引用数: h-index:机构:Chen, Kevin论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, New Haven, CT USA Univ Oxford, Dept Oncol, Oxford, EnglandMorris, Josephine论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Oncol, Oxford, England Univ Oxford, Dept Oncol, Oxford, England论文数: 引用数: h-index:机构:Childers, Anna论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Univ Oxford, Dept Oncol, Oxford, EnglandRogers, R. Curtis论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Univ Oxford, Dept Oncol, Oxford, EnglandDupont, Barbara R.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Univ Oxford, Dept Oncol, Oxford, EnglandSkinner, Cindy论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Univ Oxford, Dept Oncol, Oxford, EnglandKury, Sebastien论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CHU Nantes, Serv Genet Med, F-44000 Nantes, France Nantes Univ, CHU Nantes, CNRS, Inst Thorax,INSERM, F-44000 Nantes, France Univ Oxford, Dept Oncol, Oxford, EnglandUguen, Kevin论文数: 0 引用数: 0 h-index: 0机构: CHRU Brest, Serv Genet Med & Biol Reprod, Brest, France Univ Oxford, Dept Oncol, Oxford, EnglandPlanes, Marc论文数: 0 引用数: 0 h-index: 0机构: CHRU Brest, Serv Genet Med & Biol Reprod, Brest, France Univ Oxford, Dept Oncol, Oxford, EnglandMonteil, Danielle论文数: 0 引用数: 0 h-index: 0机构: Naval Med Ctr, Portsmouth, VA USA Univ Oxford, Dept Oncol, Oxford, EnglandLi, Megan论文数: 0 引用数: 0 h-index: 0机构: San Francisco Corp, Invitae, San Francisco, CA USA Univ Oxford, Dept Oncol, Oxford, EnglandEliyahu, Aviva论文数: 0 引用数: 0 h-index: 0机构: Sheba Med Ctr, Danek Gertner Inst Human Genet, Tel Hashomer, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Univ Oxford, Dept Oncol, Oxford, EnglandGreenbaum, Lior论文数: 0 引用数: 0 h-index: 0机构: Sheba Med Ctr, Danek Gertner Inst Human Genet, Tel Hashomer, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Sheba Med Ctr, Joseph Sagol Neurosci Ctr, Tel Hashomer, Israel Univ Oxford, Dept Oncol, Oxford, EnglandMor, Nofar论文数: 0 引用数: 0 h-index: 0机构: Sheba Med Ctr, Sheba Canc Res Ctr, Genom Unit, Tel Hashomer, Israel Univ Oxford, Dept Oncol, Oxford, England论文数: 引用数: h-index:机构:Isidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CHU Nantes, Serv Genet Med, F-44000 Nantes, France Nantes Univ, CHU Nantes, CNRS, Inst Thorax,INSERM, F-44000 Nantes, France Univ Oxford, Dept Oncol, Oxford, EnglandCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, CHU Nantes, Serv Genet Med, F-44000 Nantes, France Nantes Univ, CHU Nantes, CNRS, Inst Thorax,INSERM, F-44000 Nantes, France Univ Oxford, Dept Oncol, Oxford, England论文数: 引用数: h-index:机构:Comi, Anne论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Baltimore, MD USA Univ Oxford, Dept Oncol, Oxford, EnglandWentzensen, Ingrid M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Oxford, Dept Oncol, Oxford, EnglandVuocolo, Blake论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Univ Oxford, Dept Oncol, Oxford, EnglandLalani, Seema R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Univ Oxford, Dept Oncol, Oxford, EnglandSierra, Roberta论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Univ Oxford, Dept Oncol, Oxford, EnglandBerry, Lori论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Univ Oxford, Dept Oncol, Oxford, EnglandCarter, Kent论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Rio Grande Valley, Edinburg, TX USA Univ Oxford, Dept Oncol, Oxford, EnglandSanders, Stephan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Inst Dev & Regenerat Med, Dept Paediat, Oxford, England Univ Calif San Francisco, UCSF Weill Inst Neurosci, Dept Psychiat & Behav Sci, San Francisco, CA USA Univ Oxford, Dept Oncol, Oxford, EnglandBlagden, Sarah P.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Oncol, Oxford, England Univ Oxford, Dept Oncol, Oxford, England
- [50] The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderHUMAN MUTATION, 2022, 43 (02) : 266 - 282Kumble, Smitha论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, AustraliaLevy, Amanda M.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Rigshospitalet, Gl Landevej 7, DK-2600 Copenhagen, Denmark Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, AustraliaPunetha, Jaya论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA Icahn Sch Med Mt Sinai, Dept Genet & Gen Sci, New York, NY USA Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, AustraliaGao, Hua论文数: 0 引用数: 0 h-index: 0机构: GeneDx LLC, Dept Review Anal, Baltimore, MD USA Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, AustraliaAh Mew, Nicholas论文数: 0 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