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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani, Soha; Azamian, Mahshid S; Mendelsohn, Bryce A; Mau-Them, Frederic Tran; Réda, Manon; Nambot, Sophie; Isidor, Bertrand; van der Smagt, Jasper J; Shen, Joseph J; Shillington, Amelle; White, Lori; Elloumi, Houda Zghal; Baker, Peter R; Svihovec, Shayna; Brown, Kathleen; Koopman-Keemink, Yvonne; Hoffer, Mariette J V; Lakeman, Inge M M; Brischoux-Boucher, Elise; Kinali, Maria; Zhao, Xiaonan; Lalani, Seema R; Scott, Daryl A.
Afiliación
  • Sewani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Mendelsohn BA; Texas Children's Hospital, Houston, Texas, USA.
  • Mau-Them FT; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, California, USA.
  • Réda M; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France.
  • Nambot S; Équipe Génétique des Anomalies du Développement (GAD), Dijon, France.
  • Isidor B; Department of Medical Oncology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, France.
  • van der Smagt JJ; Platform of Transfer in Cancer Biology, Georges François Leclerc Cancer Center - UNICANCER, Dijon, France.
  • Shen JJ; Université Bourgogne Franche-Comté, Dijon, France.
  • Shillington A; Genomic and Immunotherapy Medical Institute, Dijon, France.
  • White L; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon, France.
  • Elloumi HZ; Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs", Centre de Génétique, FHU-TRANSLAD, Dijon, France.
  • Baker PR; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France.
  • Svihovec S; INSERM, CNRS, UNIV Nantes, l'institut du thorax, Nantes, France.
  • Brown K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Koopman-Keemink Y; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California, Davis, Sacramento, California, USA.
  • Hoffer MJV; Cincinnati Children's Hospital Medical Center, Department of Human Genetics, Cincinnati, Ohio, USA.
  • Lakeman IMM; Cincinnati Children's Hospital Medical Center Department of Psychiatry, Cincinnati, Ohio, USA.
  • Brischoux-Boucher E; University of Cincinnati College of Medicine Department of Pediatrics, Cincinnati, Ohio, USA.
  • Kinali M; Cincinnati Children's Hospital Medical Center, Department of Human Genetics, Cincinnati, Ohio, USA.
  • Zhao X; Clinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA.
  • Lalani SR; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
  • Scott DA; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Am J Med Genet A ; 194(3): e63445, 2024 Mar.
Article en En | MEDLINE | ID: mdl-37872713
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores Generales de Transcripción / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores Generales de Transcripción / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos