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Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.Human Mutation|November 7, 2017
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromesTakayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, et al.Human Mutation|December 18, 2018
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosisGeorgios Pampalakis, Konstantinos Mitropoulos, Georgia Xiromerisiou, et al.Human Mutation|December 18, 2018
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsDong Hoon Shin, Jinsei Jung, Young Ik Koh, et al.Human Mutation|October 28, 2006
Deletion of the parkin and PACRG gene promoter in early-onset parkinsonismSuzanne Lesage, Periquet Magali, Ebba Lohmann, et al.Human Mutation|November 17, 2006
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometryEva Gross, Georg Hölzl, Norbert Arnold, et al.Human Mutation|April 3, 2007
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. OnlineKaate R J Vanmolkot, Elena Babini, Boukje de Vries, et al.Human Mutation|April 3, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. OnlineAnthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, et al.Human Mutation|April 3, 2007
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. OnlineDaniel F Schorderet, Leila Tiab, Marie-Claire Gaillard, et al.Human Mutation|September 7, 2006
Long contiguous stretches of homozygosity in the human genomeLing-Hui Li, Sheng-Feng Ho, Chien-Hsiun Chen, et al.Pageof 578