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Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac, Aline; Leblond, Claire S; Rolland, Thomas; Cliquet, Freddy; Mathieu, Alexandre; Maruani, Anna; Delorme, Richard; Schön, Michael; Grabrucker, Andreas M; van Ravenswaaij-Arts, Conny; Phelan, Katy; Tabet, Anne-Claude; Bourgeron, Thomas.
Afiliação
  • Vitrac A; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, 75015, Paris, France. Electronic address: vitrac.aline@gmail.com.
  • Leblond CS; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, 75015, Paris, France.
  • Rolland T; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, 75015, Paris, France.
  • Cliquet F; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, 75015, Paris, France.
  • Mathieu A; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, 75015, Paris, France.
  • Maruani A; Department of Child and Adolescent Psychiatry, Hôpital Robert Debré, APHP, Paris, France.
  • Delorme R; Department of Child and Adolescent Psychiatry, Hôpital Robert Debré, APHP, Paris, France.
  • Schön M; Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany.
  • Grabrucker AM; Bernal Institute, University of Limerick, Limerick, Ireland; Dept. of Biological Sciences, University of Limerick, Limerick, Ireland; Health Research Institute HRI, University of Limerick, Limerick, Ireland.
  • van Ravenswaaij-Arts C; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.
  • Phelan K; Genetics Laboratory, Florida Cancer Specialists & Research Institute, Fort Myers, FL, 33916, USA.
  • Tabet AC; Department of Genetics, Hôpital Robert Debré, APHP, Paris, France.
  • Bourgeron T; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, 75015, Paris, France. Electronic address: thomas.bourgeron@pasteur.fr.
Eur J Med Genet ; 66(5): 104732, 2023 May.
Article em En | MEDLINE | ID: mdl-36822569
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de publicação: Holanda