Showing results (221-230 of 5,629) with videos related to

Sort By:
Pageof 563
European Journal of Human Genetics : EJHG|May 21, 2025
Tools used to appraise the quality of studies included in systematic reviews and meta-analyses in human genetics: a systematic reviewCarmen Lindsay, Ingeborg Blancquaert, François Rousseau
European Journal of Human Genetics : EJHG|May 16, 2025
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASCPablo García-González, Héctor Rodrigo Lara, Yaroslau Compta, et al.
European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.
European Journal of Human Genetics : EJHG|June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disordersHillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
European Journal of Human Genetics : EJHG|June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndromeDong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
European Journal of Human Genetics : EJHG|May 13, 2025
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafishAmoolya Kandettu, Mayuri Yeole, Hamsini Sekar, et al.
European Journal of Human Genetics : EJHG|May 10, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literatureFiona Leduc, Perrine Brunelle, Fabienne Escande, et al.
European Journal of Human Genetics : EJHG|May 9, 2025
UYSD: a novel data repository accessible via public website for worldwide population frequencies of Y-SNP haplogroupsArwin Ralf, Dion Zandstra, Bram van Wersch, et al.
European Journal of Human Genetics : EJHG|February 4, 2026
Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgarisBrittany L Mitchell, Michelle K Lupton, Miguel E Rentería, et al.
European Journal of Human Genetics : EJHG|January 26, 2026
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profilingAlejandro Soriano-Sexto, Obdulia Sánchez-Lijarcio, Leonardo Beccari, et al.
Pageof 563