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Journal of Human Immunity|June 1, 2026
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseSimran Samra, Mehul Sharma, Julia Körholz, et al.Nature|March 28, 2014
An atlas of active enhancers across human cell types and tissuesRobin Andersson, Claudia Gebhard, Irene Miguel-Escalada, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disordersClara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.Nature|April 13, 2012
The clonal and mutational evolution spectrum of primary triple-negative breast cancersSohrab P Shah, Andrew Roth, Rodrigo Goya, et al.The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.Cell|March 10, 2010
An atlas of combinatorial transcriptional regulation in mouse and manTimothy Ravasi, Harukazu Suzuki, Carlo Vittorio Cannistraci, et al.Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.Genome Research|July 29, 2020
Functional annotation of human long noncoding RNAs via molecular phenotypingJordan A Ramilowski, Chi Wai Yip, Saumya Agrawal, et al.Proceedings of the National Academy of Sciences of the United States of America|September 3, 2010
A regulatory toolbox of MiniPromoters to drive selective expression in the brainElodie Portales-Casamar, Douglas J Swanson, Li Liu, et al.Brain : a Journal of Neurology|July 10, 2018
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christina Gehbauer, Nuria C Bramswig, et al.Pageof 41