المؤلفون: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jul; Vol. 21 (7), pp. 762-8. Date of Electronic Publication: 2012 Nov 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ciliary Motility Disorders/*genetics , Encephalocele/*genetics , Membrane Proteins/*genetics , Polycystic Kidney Diseases/*genetics , Proteins/*genetics , Vesicular Transport Proteins/*genetics, Arabs/genetics ; Ciliary Motility Disorders/physiopathology ; Encephalocele/physiopathology ; Exome ; Genetic Association Studies ; Genetic Heterogeneity ; Genome, Human ; Humans ; Intercellular Signaling Peptides and Proteins ; Mutation ; Polycystic Kidney Diseases/physiopathology ; Retinitis Pigmentosa ; Sequence Analysis, DNA

SCR Disease Name: Meckel syndrome type 1