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- [1] Delineation of 15q13.3 microdeletionsCLINICAL GENETICS, 2010, 78 (02) : 149 - 161Masurel-Paulet, A.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, France CHU, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21034 Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceAndrieux, J.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Hop Jeanne de Flandre, Med Genet Lab, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceCallier, P.论文数: 0 引用数: 0 h-index: 0机构: CHU Bocage, Cytogenet Serv, Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceCuisset, J. M.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Serv Neuropediat, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceLe Caignec, C.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Genet Med, Nantes, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceHolder, M.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Hop Jeanne de Flandre, Serv Genet Clin, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceThauvin-Robinet, C.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, France CHU, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21034 Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceDoray, B.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Genet Med, Hop Hautepierre, Strasbourg, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceFlori, E.论文数: 0 引用数: 0 h-index: 0机构: CHU, Cytogenet Serv, Hop Hautepierre, Strasbourg, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceAlex-Cordier, M. P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Bron, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceBeri, M.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Brabois, Med Genet Lab, Nancy, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceBoute, O.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Hop Jeanne de Flandre, Serv Genet Clin, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceDelobel, B.论文数: 0 引用数: 0 h-index: 0机构: Hop St Vincent de Paul, Ctr Genet Chromosom, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceDieux, A.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Hop Jeanne de Flandre, Serv Genet Clin, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceVallee, L.论文数: 0 引用数: 0 h-index: 0机构: CHRU, Serv Neuropediat, Lille, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceJaillard, S.论文数: 0 引用数: 0 h-index: 0机构: CHU, Cytogenet Serv, Rennes, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceOdent, S.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Sud, Unite Genet Med, Rennes, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceIsidor, B.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Genet Med, Nantes, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceBeneteau, C.论文数: 0 引用数: 0 h-index: 0机构: Matern Reg Univ, Serv Neonatol Genet, Nancy, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceVigneron, J.论文数: 0 引用数: 0 h-index: 0机构: Matern Reg Univ, Serv Neonatol Genet, Nancy, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceBilan, F.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Genet, Poitiers, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceGilbert-Dussardier, B.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Genet, Poitiers, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceDubourg, C.论文数: 0 引用数: 0 h-index: 0机构: CHU, Genet Mol Lab, Rennes, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceLabalme, A.论文数: 0 引用数: 0 h-index: 0机构: GHE, Hosp Civils Lyon, Serv Cytogenet Constitut, Lyon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceBidon, C.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceGautier, A.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FrancePernes, P.论文数: 0 引用数: 0 h-index: 0机构: Ctr Soins St Exupery, Vendin Le Vieil, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FrancePinoit, J. M.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Pedopsychiat, Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceHuet, F.论文数: 0 引用数: 0 h-index: 0机构: CHU, Serv Pediat, Hop Enfants, Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceMugneret, F.论文数: 0 引用数: 0 h-index: 0机构: CHU Bocage, Cytogenet Serv, Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceAral, B.论文数: 0 引用数: 0 h-index: 0机构: Matern Reg Univ, Serv Neonatol Genet, Nancy, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceJonveaux, P.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Brabois, Med Genet Lab, Nancy, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceSanlaville, D.论文数: 0 引用数: 0 h-index: 0机构: GHE, Hosp Civils Lyon, Serv Cytogenet Constitut, Lyon, France Ctr Soins St Exupery, Vendin Le Vieil, France CHU, Serv Pedopsychiat, Dijon, France CHU, Serv Pediat, Hop Enfants, Dijon, France Univ Lyon 1, EA 4171, F-69365 Lyon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, FranceFaivre, L.论文数: 0 引用数: 0 h-index: 0机构: CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, France CHU, Hop Enfants, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21034 Dijon, France CHU, Hop Enfants, Ctr Genet, F-21034 Dijon, France
- [2] Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (12) : 3897 - 3899Casas-Alba, Didac论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, Spain Inst Recerca St Joan Deu, Barcelona, Spain Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, SpainNolasco, Gregorio Alexander论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, Spain Inst Recerca St Joan Deu, Barcelona, Spain Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, SpainDiez-Juan, Maria论文数: 0 引用数: 0 h-index: 0机构: Inst Recerca St Joan Deu, Barcelona, Spain Hosp St Joan Deu, Child & Adolescent Mental Hlth Area, Barcelona, Spain Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, SpainMezzatesta, Marcela论文数: 0 引用数: 0 h-index: 0机构: Inst Recerca St Joan Deu, Barcelona, Spain Hosp St Joan Deu, Child & Adolescent Mental Hlth Area, Barcelona, Spain Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, SpainBalana, Gemma论文数: 0 引用数: 0 h-index: 0机构: Inst Recerca St Joan Deu, Barcelona, Spain Hosp St Joan Deu, Child & Adolescent Mental Hlth Area, Barcelona, Spain Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, SpainFons, Carmen论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, Spain Inst Recerca St Joan Deu, Barcelona, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid, Spain Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, Spain
- [3] A 15q13.3 microdeletion segregating with autismEUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (05) : 687 - 692Pagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandWing, Kirsty论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandAkha, Elham Sadighi论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandKnight, Samantha J. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandBoelte, Sven论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Klin Psychiat & Psychotherapie Kindes & Jugendalt, Frankfurt, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandSchmoetzer, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Klin Psychiat & Psychotherapie Kindes & Jugendalt, Frankfurt, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandDuketis, Eftichia论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Klin Psychiat & Psychotherapie Kindes & Jugendalt, Frankfurt, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandPoustka, Fritz论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Klin Psychiat & Psychotherapie Kindes & Jugendalt, Frankfurt, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandKlauck, Sabine M.论文数: 0 引用数: 0 h-index: 0机构: Deutsch Krebsforschungszentrum, Abt Mol Genomanal, D-6900 Heidelberg, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandPoustka, Annemarie论文数: 0 引用数: 0 h-index: 0机构: Deutsch Krebsforschungszentrum, Abt Mol Genomanal, D-6900 Heidelberg, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandRagoussis, Jiannis论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandBailey, Anthony J.论文数: 0 引用数: 0 h-index: 0机构: Warneford Hosp, Univ Dept Psychiat, Oxford OX3 7JX, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, EnglandMonaco, Anthony P.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford Partnership Comprehens Biomed Res Ctr, Oxford OX3 7BN, England
- [4] Plasticity of Cortical Excitatory-Inhibitory BalanceANNUAL REVIEW OF NEUROSCIENCE, VOL 38, 2015, 38 : 195 - 219Froemke, Robert C.论文数: 0 引用数: 0 h-index: 0机构: NYU, Sch Med, Skirball Inst Biomol Med, Neurosci Inst, New York, NY 10016 USA NYU, Sch Med, Dept Otolaryngol, New York, NY 10016 USA NYU, Sch Med, Dept Neurosci, New York, NY 10016 USA NYU, Sch Med, Dept Physiol, New York, NY 10016 USA NYU, Ctr Neural Sci, New York, NY 10003 USA NYU, Sch Med, Skirball Inst Biomol Med, Neurosci Inst, New York, NY 10016 USA
- [5] A family with an inherited 15q13.3 microdeletionJOURNAL OF MEDICAL GENETICS, 2011, 48 : S84 - S84Jose, Sian论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesMorgan, S. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesPilz, D. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, WalesRoberts, S. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales Univ Wales Hosp, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales
- [6] A 15q13.3 microdeletion segregating with autismEuropean Journal of Human Genetics, 2009, 17 : 687 - 692Alistair T Pagnamenta论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseKirsty Wing论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseElham Sadighi Akha论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseSamantha JL Knight论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseSven Bölte论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseGabriele Schmötzer论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseEftichia Duketis论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseFritz Poustka论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseSabine M Klauck论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseAnnemarie Poustka论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseJiannis Ragoussis论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseAnthony J Bailey论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare GenomanalyseAnthony P Monaco论文数: 0 引用数: 0 h-index: 0机构: The Wellcome Trust Centre for Human Genetics,Abteilung Molekulare Genomanalyse
- [7] A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesNature Genetics, 2009, 41 : 1269 - 1271Marwan Shinawi论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsChristian P Schaaf论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSamarth S Bhatt论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsZhilian Xia论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsAnkita Patel论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSau Wai Cheung论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsBrendan Lanpher论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsSandra Nagl论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsHeinrich Stephan Herding论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsClaudia Nevinny-Stickel论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsLaDonna L Immken论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsGayle Simpson Patel论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsJennifer Ruth German论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsArthur L Beaudet论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsPawel Stankiewicz论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human Genetics
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