Your browser doesn't support javascript.
loading
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi, Ansar A; Blaesius, Kathrin; Hu, Hao; Latif, Zahid; Picker-Minh, Sylvie; Khan, Muhammad N; Farooq, Sundas; Khan, Muzammil A; Kaindl, Angela M.
Afiliação
  • Abbasi AA; Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
  • Blaesius K; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Berlin, Germany.
  • Hu H; Berlin Insitute of Health (BIH), Anna-Louisa-Karsch Strasse 2, 10178, Berlin, Germany.
  • Latif Z; Charité - Universitätsmedizin Berlin, Department of Pediatric Neurology, Berlin, Germany.
  • Picker-Minh S; Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Khan MN; Department of Zoology, University of Azad Jammu and Kashmir Muzaffarabad, Muzaffarabad, Pakistan.
  • Farooq S; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Berlin, Germany.
  • Khan MA; Berlin Insitute of Health (BIH), Anna-Louisa-Karsch Strasse 2, 10178, Berlin, Germany.
  • Kaindl AM; Charité - Universitätsmedizin Berlin, Department of Pediatric Neurology, Berlin, Germany.
Am J Med Genet B Neuropsychiatr Genet ; 174(8): 839-845, 2017 Dec.
Article em En | MEDLINE | ID: mdl-29031008
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios da Fala / Proteínas de Transporte / Códon sem Sentido / Exoma / Homozigoto / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet B Neuropsychiatr Genet Ano de publicação: 2017 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: Distúrbios da Fala / Proteínas de Transporte / Códon sem Sentido / Exoma / Homozigoto / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet B Neuropsychiatr Genet Ano de publicação: 2017 Tipo de documento: Article