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American Journal of Human Genetics|May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndromeMark J Rieder, Glenn E Green, Sarah S Park, et al.Plos Genetics|September 21, 2011
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceLisenka E L M Vissers, Timothy C Cox, A Murat Maga, et al.Journal of Medical Genetics|April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.Genome Research|April 15, 2025
Common <i>cis</i>-regulatory variation modifies the penetrance of pathogenic <i>SHROOM3</i> variants in craniofacial microsomiaHao Zhu, Jiao Zhang, Soumya Rao, et al.Current Biology : CB|December 13, 2024
PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humansQing Li, Pierre Faux, Emma Wentworth Winchester, et al.The Journal of Cell Biology|March 10, 2022
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicityAdrienne E D Stormo, Farbod Shavarebi, Molly FitzGibbon, et al.Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.American Journal of Human Genetics|December 5, 2017
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe AttachmentJohn R Shaffer, Jinxi Li, Myoung Keun Lee, et al.Nature Genetics|June 5, 2023
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse modelKatherine A Waugh, Ross Minter, Jessica Baxter, et al.Genome Biology|September 16, 2011
Mutation discovery in mice by whole exome sequencingHeather Fairfield, Griffith J Gilbert, Mary Barter, et al.Pageof 12