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Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
Piard, Juliette; Philippe, Christophe; Marvier, Marie; Beneteau, Claire; Roth, Virginie; Valduga, Mylène; Béri, Mylène; Bonnet, Céline; Grégoire, Marie-José; Jonveaux, Philippe; Leheup, Bruno.
Affiliation
  • Piard J; Service de Médecine Infantile III et Génétique Clinique, Centre de référence Anomalies du développement et Syndromes malformatifs, Centre Hospitalier Universitaire de Nancy, Nancy-Université Henri Poincaré, Vandoeuvre les Nancy, France. jpiard@chu-besancon.fr
Am J Med Genet A ; 152A(8): 1933-41, 2010 Aug.
Article in En | MEDLINE | ID: mdl-20635369
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prader-Willi Syndrome / Autistic Disorder / Chromosomes, Human, Pair 15 / Angelman Syndrome / Gene Duplication / Intellectual Disability Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prader-Willi Syndrome / Autistic Disorder / Chromosomes, Human, Pair 15 / Angelman Syndrome / Gene Duplication / Intellectual Disability Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2010 Type: Article Affiliation country: France