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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.Human Mutation|September 14, 2006
BTKbase: the mutation database for X-linked agammaglobulinemiaJouni Väliaho, C I Edvard Smith, Mauno VihinenHuman Mutation|September 16, 2006
Somatic microindels: analysis in mouse soma and comparison with the human germlineKelly D Gonzalez, Kathleen A Hill, Kai Li, et al.Human Mutation|March 21, 2007
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)Philip A Chan, Sekhar Duraisamy, Peter J Miller, et al.Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.Human Mutation|September 5, 2006
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experimentsMarianne Stef, Delphine Simon, Ingrid Burgelin, et al.Human Mutation|September 20, 2006
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findingsIris Ahronowitz, Winnie Xin, Rosemary Kiely, et al.Pageof 577