Results 251 to 260 of about 1,041,152 (399)
Incorporating predicted functions of nonsynonymous variants into gene-based analysis of exome sequencing data: a comparative study [PDF]
, 2011 Peng Wei, Xiaoming Liu, Yun-Xin Fu
openalex +1 more source
Exome Sequencing and Molecular Diagnosis [PDF]
Deutsches Ärzteblatt international, 2019 openaire +3 more sources
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022 Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong +6 more
wiley +1 more source
Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
, 2011 Zhenlin Zhang +13 more
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Exome Sequencing Links Gene Mutation in Angiopoietin-Like Protein 3 With Low-Density Lipoprotein Cholesterol [PDF]
, 2011 Nicole L. Glazer
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AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022 Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth +5 more
wiley +1 more source
High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer [PDF]
, 2011 Tao Jiang +4 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source