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Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of diseaseNehir E Kurtas, Alba Sanchis-Juan, Eren Shin, et al.American Journal of Human Genetics|February 24, 2015
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS lociElizabeth J Leslie, Margaret A Taub, Huan Liu, et al.American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.American Journal of Human Genetics|March 29, 2016
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3Elizabeth J Leslie, Huan Liu, Jenna C Carlson, et al.Human Molecular Genetics|April 2, 2016
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13Elizabeth J Leslie, Jenna C Carlson, John R Shaffer, et al.Pageof 34