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Nature|April 13, 2012
De novo mutations revealed by whole-exome sequencing are strongly associated with autismStephan J Sanders, Michael T Murtha, Abha R Gupta, et al.American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.Annals of Neurology|September 1, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathyYongjin Yoo, Jane Jung, Yoo-Na Lee, et al.Cell|November 26, 2013
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autismA Jeremy Willsey, Stephan J Sanders, Mingfeng Li, et al.The Journal of Clinical Investigation|October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndromeJia Rao, Shazia Ashraf, Weizhen Tan, et al.The Journal of Experimental Medicine|January 12, 2021
Neuroinvasion of SARS-CoV-2 in human and mouse brainEric Song, Ce Zhang, Benjamin Israelow, et al.Science Advances|February 1, 2021
Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and miceAmar J Majmundar, Florian Buerger, Thomas A Forbes, et al.Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.Journal of the American Society of Nephrology : JASN|January 19, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant RecipientsNina Mann, Daniela A Braun, Kassaundra Amann, et al.Pageof 166