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Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
Abdel-Hamid, Mohamed S; Ismail, Manal F; Darwish, Hebatallh A; Effat, Laila K; Zaki, Maha S; Abdel-Salam, Ghada M H.
  • Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Ismail MF; Biochemistry Department, Faculty of Pharmacy, Cairo University, Cairo, Egypt.
  • Darwish HA; Biochemistry Department, Faculty of Pharmacy, Cairo University, Cairo, Egypt.
  • Effat LK; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Am J Med Genet A ; 170(8): 2133-40, 2016 08.
Article en En | MEDLINE | ID: mdl-27250695
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Estudios de Asociación Genética / Microcefalia / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Estudios de Asociación Genética / Microcefalia / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article