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Human Molecular Genetics|May 31, 2012
Evidence for an oligogenic basis of amyotrophic lateral sclerosisMarka van Blitterswijk, Michael A van Es, Eric A M Hennekam, et al.Human Molecular Genetics|June 2, 2012
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspotsElias Elinati, Paul Kuentz, Claire Redin, et al.Human Molecular Genetics|June 2, 2012
Early complex I assembly defects result in rapid turnover of the ND1 subunitOlga Zurita Rendón, Eric A ShoubridgeHuman Molecular Genetics|May 15, 2012
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegenerationC J Ferguson, G M Lenk, J M Jones, et al.Human Molecular Genetics|May 15, 2012
Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodiesShingo Kariya, Diane B Re, Arnaud Jacquier, et al.Human Molecular Genetics|June 1, 1997
The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblastsM Alders, M Hodges, A K Hadjantonakis, et al.Human Molecular Genetics|June 1, 1997
A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin geneV Oron-Karni, D Filon, D Rund, et al.Human Molecular Genetics|June 1, 1997
Expression of mutated glucocerebrosidase alleles in human cellsM Pasmanik-Chor, L Madar-Shapiro, E O Stein, et al.Human Molecular Genetics|June 1, 1997
A novel candidate tumour suppressor locus at 9q32-33 in bladder cancer: localization of the candidate region within a single 840 kb YACT Habuchi, O Yoshida, M A KnowlesHuman Molecular Genetics|June 1, 1997
The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunitT M Bryan, L Marusic, S Bacchetti, et al.Pageof 1,196