Your browser doesn't support javascript.
loading
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb, Hussam; Au, P Y Billie; Berland, Siren; Cogne, Benjamin; Demurger, Florence; Fluss, Joel; Isidor, Bertrand; Frank, L Matthew; Varvagiannis, Konstantinos; Koolen, David A; McDonald, Marie; Montgomery, Sarah; Moortgat, Stéphanie; Deprez, Marie; Karadurmus, Deniz; Paulsen, Julie; Reis, André; Rieger, Melissa; Vasileiou, Georgia; Willing, Marcia; Shinawi, Marwan.
Afiliação
  • Al-Kateb H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Au PYB; University of Calgary, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
  • Berland S; Department of medical genetics, Haukeland University Hospital, Bergen, Norway.
  • Cogne B; Centre Hospitalier Universitaire de Nantes, Service de G'en'etique M'edicale, Nantes, France.
  • Demurger F; Service de Génétique, Vannes, France.
  • Fluss J; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Isidor B; Centre Hospitalier Universitaire de Nantes, Service de G'en'etique M'edicale, Nantes, France.
  • Frank LM; Division of Neurology, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Varvagiannis K; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • McDonald M; Duke University Medical Center, Durham, North Carolina, USA.
  • Montgomery S; Duke University Medical Center, Durham, North Carolina, USA.
  • Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Deprez M; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Karadurmus D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Paulsen J; Department of medical genetics, Haukeland University Hospital, Bergen, Norway.
  • Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Rieger M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA.
Clin Genet ; 105(3): 294-301, 2024 03.
Article em En | MEDLINE | ID: mdl-38044714
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deficiência Intelectual Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deficiência Intelectual Idioma: En Ano de publicação: 2024 Tipo de documento: Article