Search Results - "FAKHER, Mahmoud"
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Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
Published in JAMA psychiatry (Chicago, Ill.) (01-03-2017)“…Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. To…”
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Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
Published in European journal of human genetics : EJHG (01-11-2011)“…Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fraction of severe cognitive dysfunction disorders…”
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Journal Article -
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Homozygosity mapping in 64 Syrian consanguineous families with non-syndromic intellectual disability reveals 11 novel loci and high heterogeneity
Published in European journal of human genetics : EJHG (01-06-2011)“…Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fraction of severe cognitive dysfunction disorders…”
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Journal Article