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Management of copy number variants associated with incomplete penetrance and variable expressivity-Results of a French survey.
Lejamtel, Floriane; Oheix, Cécile; Morales, Elisa; Martinovic, Jelena; Labrune, Philippe; Petit, François Mickaël; Receveur, Aline; Achour-Frydman, Nelly; Benachi, Alexandra; Puisney-Dakhli, Chloé; Vivanti, Alexandre Joseph.
Afiliação
  • Lejamtel F; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Oheix C; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Morales E; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Martinovic J; Pediatric Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Labrune P; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Petit FM; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Receveur A; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Achour-Frydman N; Pediatric Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Benachi A; Histology, Embryology and Cytogenetics Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Puisney-Dakhli C; Obstetrics and Gynecology Department, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
  • Vivanti AJ; Fetal pathology Unit, Antoine Béclère Hospital, GHU Paris Saclay, AP-HP, Clamart, France.
Clin Genet ; 103(3): 335-340, 2023 03.
Article em En | MEDLINE | ID: mdl-36273389
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Variações do Número de Cópias de DNA Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Variações do Número de Cópias de DNA Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article