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American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.American Journal of Human Genetics|January 13, 2005
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophyKazuhiko Nakabayashi, Daniela Amann, Yan Ren, et al.Proceedings of the National Academy of Sciences of the United States of America|September 18, 2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneKoji M Nishiguchi, Richard G Tearle, Yangfan P Liu, et al.Plos Genetics|March 4, 2014
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease linksRico Rueedi, Mirko Ledda, Andrew W Nicholls, et al.American Journal of Human Genetics|November 16, 2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany, Nili Avidan, Jean Delaunay, et al.Plos One|November 6, 2008
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysToshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, et al.Science Translational Medicine|January 7, 2011
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056Sébastien Jacquemont, Aurore Curie, Vincent des Portes, et al.Gastroenterology|January 12, 2010
Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association studyAndri Rauch, Zoltán Kutalik, Patrick Descombes, et al.Biological Psychiatry|May 21, 2018
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First StudySandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, et al.JAMA|May 27, 2015
Copy number variations and cognitive phenotypes in unselected populationsKatrin Männik, Reedik Mägi, Aurélien Macé, et al.Pageof 16