Showing results (1451-1460 of 9,569) with videos related to
Sort By:
Pageof 957
Human Genetics|January 9, 2025
Human organoids for rapid validation of gene variants linked to cochlear malformationsMohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman, et al.Human Genetics|January 8, 2025
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopiaMilly S Tedja, Joanna Swierkowska-Janc, Clair A Enthoven, et al.Human Genetics|January 4, 2025
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity searchHideki Mutai, Fuyuki Miya, Kiyomitsu Nara, et al.Human Genetics|October 7, 2024
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph diseaseAhmed M Sidky, Ana Rosa Vieira Melo, Teresa T Kay, et al.Human Genetics|October 15, 2024
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved casesHedwig M Velde, Maryam Vaseghi-Shanjani, Jeroen J Smits, et al.Human Genetics|September 30, 2024
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patientsDaniel A Baird, Hira Mubeen, Canan Doganli, et al.Human Genetics|October 28, 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sourcesRobin-Tobias Jauss, Bernt Popp, Joachim Bachmann, et al.Human Genetics|October 19, 2024
Methodologies underpinning polygenic risk scores estimation: a comprehensive overviewCarene Anne Alene Ndong Sima, Kathryn Step, Yolandi Swart, et al.Human Genetics|February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challengesPaola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, et al.Human Genetics|August 8, 2024
Structure-informed protein language models are robust predictors for variant effectsYuanfei Sun, Yang ShenPageof 957