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Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.Nature Genetics|November 17, 2023
Primate-specific ZNF808 is essential for pancreatic development in humansElisa De Franco, Nick D L Owens, Hossam Montaser, et al.American Journal of Human Genetics|January 19, 2022
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorderNuno Maia, Sven Potelle, Hamide Yildirim, et al.Neuron|December 19, 2014
Katanin p80 regulates human cortical development by limiting centriole and cilia numberWen F Hu, Oz Pomp, Tawfeg Ben-Omran, et al.Science (New York, N.Y.)|July 28, 2022
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutabilityTaejeong Bae, Liana Fasching, Yifan Wang, et al.American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.Nature Genetics|October 2, 2012
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar developmentGaneshwaran H Mochida, Vijay S Ganesh, Maria I de Michelena, et al.Epilepsia|June 16, 2022
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commissionImad Najm, Dennis Lal, Mario Alonso Vanegas, et al.American Journal of Human Genetics|March 25, 2014
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresXiaochang Zhang, Jiqiang Ling, Giulia Barcia, et al.Cell Reports|November 15, 2025
Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortexVinayak V Viswanadham, Sonia N Kim, Emre Caglayan, et al.Pageof 41