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Human Mutation|May 12, 2017
Haplotype reference consortium panel: Practical implications of imputations with large reference panelsAdriana I Iglesias, Sven J van der Lee, Pieter W M Bonnemaijer, et al.Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.Human Mutation|May 12, 2017
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathyTojo Nakayama, Jiang Wu, Patricia Galvin-Parton, et al.Human Mutation|September 6, 2016
Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals with Down SyndromeErik Hefti, Jonathan Bard, Javier G BlancoHuman Mutation|May 18, 2017
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variantsLipika R Pal, Kunal Kundu, Yizhou Yin, et al.Human Mutation|May 18, 2017
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn diseaseLipika R Pal, Kunal Kundu, Yizhou Yin, et al.Human Mutation|July 6, 2017
New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing lossWenjun Xia, Jiongjiong Hu, Fei Liu, et al.Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.Human Mutation|December 6, 2005
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assaysSilvia Dominissini, Emanuele Buratti, Bruno Bembi, et al.Human Mutation|March 17, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseasesTakashi Kawamura, Masafumi Ohtsubo, Susumu Mitsuyama, et al.Pageof 574