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Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.Science (New York, N.Y.)|December 8, 2018
A mechanistic classification of clinical phenotypes in neuroblastomaSandra Ackermann, Maria Cartolano, Barbara Hero, et al.Nature Genetics|January 13, 2009
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyIngo Helbig, Heather C Mefford, Andrew J Sharp, et al.American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.Cancer Discovery|January 29, 2014
CD74-NRG1 fusions in lung adenocarcinomaLynnette Fernandez-Cuesta, Dennis Plenker, Hirotaka Osada, et al.Circulation. Cardiovascular Genetics|July 16, 2015
ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart FailureByambajav Buyandelger, Catherine Mansfield, Sawa Kostin, et al.Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.Nature|October 16, 2015
Telomerase activation by genomic rearrangements in high-risk neuroblastomaMartin Peifer, Falk Hertwig, Frederik Roels, et al.Pageof 52