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Human Mutation|September 1, 2005
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairmentRegie Lyn P Santos, Muhammad Wajid, Mohammad Nasim Khan, et al.
Biorxiv : the Preprint Server for Biology|December 25, 2025
Comprehensive perturbation of transcription factors in human cardiomyocytes reveals the regulatory architecture of congenital heart diseaseChikara Takeuchi, Sushama Sivakumar, Anjana Sundarrajan, 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.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, 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.
Elife|December 22, 2020
KDM5A mutations identified in autism spectrum disorder using forward geneticsLauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, et al.
Stem Cell Reports|November 14, 2025
Benchmarking and optimizing Perturb-seq in differentiating human pluripotent stem cellsSushama Sivakumar, Yihan Wang, Sean C Goetsch, et al.
Biorxiv : the Preprint Server for Biology|February 3, 2025
Benchmarking and optimizing Perturb-seq in differentiating human pluripotent stem cellsSushama Sivakumar, Yihan Wang, Sean C Goetsch, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
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