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Medrxiv : the Preprint Server for Health Sciences|December 25, 2025
Genetic risk in extremely early onset type 1 diabetesAmber M Luckett, Georgia Bonfield, Gareth Hawkes, et al.Cell|March 19, 2024
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytesJavier Ganz, Lovelace J Luquette, Sara Bizzotto, et al.Nature Genetics|June 19, 2019
Recessive gene disruptions in autism spectrum disorderRyan N Doan, Elaine T Lim, Silvia De Rubeis, et al.Genes & Development|March 5, 2015
Control of a neuronal morphology program by an RNA-binding zinc finger protein, UnkemptJernej Murn, Kathi Zarnack, Yawei J Yang, et al.Human Molecular Genetics|June 14, 2014
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsStefania Di Costanzo, Anuradha Balasubramanian, Heather L Pond, et al.JAMA Pediatrics|April 7, 2017
Association of Income Inequality With Pediatric Hospitalizations for Ambulatory Care-Sensitive ConditionsJessica L Bettenhausen, Jeffrey D Colvin, Jay G Berry, et al.American Journal of Human Genetics|March 21, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetesMatthew B Johnson, James Russ-Silsby, Paul A Blair, et al.Diabetes|May 6, 2017
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal DiabetesMatthew B Johnson, Elisa De Franco, Hana Lango Allen, et al.Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.European Journal of Human Genetics : EJHG|August 20, 2021
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disabilityNatja Haag, Ene-Choo Tan, Matthias Begemann, et al.Pageof 41