Showing results (3561-3570 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|August 29, 2012
JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptorToshimichi Yasuda, Osvaldo Delbono, Zhong-Min Wang, et al.Human Mutation|August 23, 2012
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effectNelly Abdelfatah, Nancy Merner, Jim Houston, et al.Human Mutation|August 23, 2012
Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer casesJanine L Bakker, Saskia E van Mil, Gerry Crossan, et al.Human Mutation|August 21, 2012
Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasisMuhammad Farooq, Hiroyuki Nakai, Atsushi Fujimoto, et al.Human Mutation|September 23, 1998
Single nucleotide polymorphism hunting in cyberspaceZ Gu, L Hillier, P Y KwokHuman Mutation|September 23, 1998
Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemiaM Mandelshtam, K Chakir, S Shevtsov, et al.Human Mutation|September 23, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patientsM Montfort, L Vilageliu, N Garcia-Giralt, et al.Human Mutation|July 22, 1998
Exons - introns = lexons: in-frame concatenation of exons by PCRT M Tuohy, J GrodenHuman Mutation|June 26, 2012
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth diseaseByung-Ok Choi, Soo Kyung Koo, Mi-Hyun Park, et al.Human Mutation|March 25, 2010
EYS is a major gene for rod-cone dystrophies in FranceIsabelle Audo, José-Alain Sahel, Saddek Mohand-Saïd, et al.Pageof 583