Výsledky vyhledávání - "Mohammad Z. Seidahmed"

Autor: Mohammad Z, Seidahmed

Publikováno v: Saudi Medical Journal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fa1eb7f0ba32aeda465c848300bd3800
https://pubmed.ncbi.nlm.nih.gov/25737186

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Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

Autor: Abdulmajeed AlDrees, Salah A. Elmalik, Mustafa A. Salih, Mirna Assoum, Dorra H'mida-Ben Brahim, Mohammad M. Kabiraj, Clotilde Lagier-Tourenne, Mohammad Z. Seidahmed, Nathalie Drouot, Michel Koenig, Taha Sadig Ahmed

Publikováno v: Brain : a journal of neurology. 133(Pt 8)

We have identified a novel form of recessive ataxia that segregates in three children of a large consanguineous Saudi Arabian family. The three patients presented with childhood onset gait and limb ataxia, dysarthria and had limited walking without a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f3b23b3eb45386bc028c0136fe1b4d
https://pubmed.ncbi.nlm.nih.gov/20826435

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A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation

Autor: Ali Hellani, Mohammad Z. Seidahmed, Khaled K. Abu-Amero, Thomas M. Bosley, Mustafa A. Salih, Tageldin S Elmalik, Ghassan Zidan

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 11, Iss 1, p 135 (2010)

Background Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD). Case Presentation We describe a 17-year-old

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa97b14e3193e7cd51d8f0c161c0028

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