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Journal of Medical Genetics|February 27, 2019
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosisBrooke Sadler, Gabe Haller, Lilian Antunes, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.Arthritis and Rheumatism|August 20, 2010
The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1Susan D Thompson, Marc Sudman, Paula S Ramos, et al.Genetics in Medicine Open|February 10, 2025
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasiaChristina G Tise, Katie Ashton, Lachlan de Hayr, et al.Scientific Reports|March 18, 2018
An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosisYoji Ogura, Kazuki Takeda, Ikuyo Kou, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 27, 2021
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in MiceJonathan J Rios, Kristin Denton, Jamie Russell, et al.Arthritis and Rheumatism|September 29, 2011
Hierarchy of risk of childhood-onset rheumatoid arthritis conferred by HLA-DRB1 alleles encoding the shared epitopeSampath Prahalad, Susan D Thompson, Karen N Conneely, et al.American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.Scientific Reports|August 3, 2018
A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosisIkuyo Kou, Kota Watanabe, Yohei Takahashi, et al.Genes & Development|October 15, 2016
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosisCarol-Anne Martin, Jennie E Murray, Paula Carroll, et al.Pageof 8