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Elife|February 17, 2016
Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunityPrithvi Raj, Ekta Rai, Ran Song, et al.Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.HGG Advances|May 1, 2023
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.Nature Genetics|January 27, 2009
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathwaysRajan P Nair, Kristina Callis Duffin, Cynthia Helms, et al.American Journal of Human Genetics|December 7, 2015
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaMary J Gray, Peter Kannu, Swarkar Sharma, et al.Journal of Medical Genetics|April 12, 2014
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groupsDouglas Londono, Ikuyo Kou, Todd A Johnson, et al.Elife|July 15, 2025
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosisLianlei Wang, Xinyu Yang, Sen Zhao, et al.Nature Genetics|May 14, 2013
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosisIkuyo Kou, Yohei Takahashi, Todd A Johnson, et al.Frontiers in Endocrinology|July 7, 2023
Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization studyNao Otomo, Anas M Khanshour, Masaru Koido, et al.European Journal of Human Genetics : EJHG|February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosisSonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.Pageof 8