Your browser doesn't support javascript.
loading
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Al-Maawali, Almundher; Barry, Brenda J; Rajab, Anna; El-Quessny, Malak; Seman, Ann; Coury, Stephanie Newton; Barkovich, A James; Yang, Edward; Walsh, Christopher A; Mochida, Ganeshwaran H; Stoler, Joan M.
Affiliation
  • Al-Maawali A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
  • Barry BJ; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Rajab A; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
  • El-Quessny M; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Seman A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
  • Coury SN; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Barkovich AJ; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.
  • Yang E; National Genetics Center, Directorate General of Health Affairs, Ministry of Health, Muscat, Oman.
  • Walsh CA; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
  • Mochida GH; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
  • Stoler JM; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts.
Am J Med Genet A ; 170A(2): 435-440, 2016 Feb.
Article in En | MEDLINE | ID: mdl-26463574
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Seizures / Blindness / Adaptor Proteins, Signal Transducing / Microcephaly / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Year: 2016 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Seizures / Blindness / Adaptor Proteins, Signal Transducing / Microcephaly / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Female / Humans / Infant / Male / Middle aged / Newborn Language: En Year: 2016 Type: Article