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المصدر: Human genetics [Hum Genet] 2017 Aug; Vol. 136 (8), pp. 921-939. Date of Electronic Publication: 2017 Jun 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Exome* , Genome, Human*, Genetic Diseases, Inborn/*diagnosis , Genetic Diseases, Inborn/*epidemiology, Consanguinity ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Molecular Sequence Annotation ; Morbidity ; Mutation ; Phenotype ; Reproducibility of Results ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA