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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos, C; Lambert, L; Giuliano, F; Doray, B; Roubertie, A; Goldenberg, A; Delobel, B; Layet, V; N'guyen, M A; Saunier, A; Verneau, F; Jonveaux, P; Philippe, C.
Affiliation
  • Nemos C; Laboratoire de génétique médicale, EA 4002, Vandoeuvre-les-Nancy, France.
Clin Genet ; 76(4): 357-71, 2009 Oct.
Article in En | MEDLINE | ID: mdl-19793311
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Seizures / Rett Syndrome / Protein Serine-Threonine Kinases / Genetic Predisposition to Disease / Mutation Limits: Child, preschool / Female / Humans / Infant / Newborn Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2009 Document type: Article Affiliation country: Francia Country of publication: Dinamarca
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Seizures / Rett Syndrome / Protein Serine-Threonine Kinases / Genetic Predisposition to Disease / Mutation Limits: Child, preschool / Female / Humans / Infant / Newborn Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2009 Document type: Article Affiliation country: Francia Country of publication: Dinamarca