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Human Mutation|February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)Yu Sun, Rowida Almomani, Guido J Breedveld, et al.The British Journal of Ophthalmology|August 23, 2014
Prognostic parameters in uveal melanoma and their association with BAP1 expressionT Huibertus van Essen, Sake I van Pelt, Mieke Versluis, et al.Human Molecular Genetics|December 10, 2015
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Robert M W Hofstra, Luca Signorile, et al.Circulation. Genomic and Precision Medicine|August 29, 2019
Biallelic Variants in <i>ASNA1</i>, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric CardiomyopathyJudith M A Verhagen, Myrthe van den Born, Herma C van der Linde, et al.Journal of the American College of Cardiology|February 6, 2016
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric CardiomyopathyRowida Almomani, Judith M A Verhagen, Johanna C Herkert, et al.The Analyst|July 21, 2017
Raman spectroscopy for cancer detection and cancer surgery guidance: translation to the clinicsInês P Santos, Elisa M Barroso, Tom C Bakker Schut, et al.Pageof 3