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Human Genetics|April 3, 2020
Comprehensive functional annotation of susceptibility variants associated with asthmaYadu Gautam, Yashira Afanador, Sudhir Ghandikota, et al.Human Genetics|April 2, 2020
A population-based approach for gene prioritization in understanding complex traitsMassimo Mezzavilla, Massimiliano Cocca, Francesca Guidolin, et al.Human Genetics|April 6, 2020
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouseBrendan J Houston, Donald F Conrad, Moira K O'BryanHuman Genetics|October 1, 1987
Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritanceA Czeizel, A LosonciHuman Genetics|October 23, 2020
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathiesLiliya Nazlamova, N Simon Thomas, Man-Kim Cheung, et al.Human Genetics|October 27, 2020
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest playerTristan Celse, Caroline Cazin, Flore Mietton, et al.Human Genetics|January 11, 2019
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndromeAnelisa Gollo Dantas, Marcos Leite Santoro, Natalia Nunes, et al.Human Genetics|January 24, 2019
Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectivesJia Xu, Pengwei Yang, Shang Xue, et al.Human Genetics|January 24, 2019
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing dataKaren Y He, Xiaoyin Li, Tanika N Kelly, et al.Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.Pageof 958