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Human Mutation|May 4, 2006
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPSJonas Denecke, Thomas Brune, Tobias Feldhaus, et al.Human Mutation|May 28, 2010
Genomic copy number variations in three Southeast Asian populationsChee-Seng Ku, Yudi Pawitan, Xueling Sim, et al.Human Mutation|May 28, 2010
Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomaliesAlexander W Wyatt, Robert J Osborne, Helen Stewart, et al.Human Mutation|May 28, 2010
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateKaren Nuytemans, Jessie Theuns, Marc Cruts, et al.Human Mutation|May 28, 2010
Assessment of complement C4 gene copy number using the paralog ratio testMichelle M A Fernando, Lora Boteva, David L Morris, et al.Human Mutation|May 28, 2010
SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene regionEspen Melum, Sandra May, Markus B Schilhabel, et al.Human Mutation|May 28, 2010
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndromeTojo Nakayama, Ikuo Ogiwara, Koichi Ito, et al.Human Mutation|June 5, 2010
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)Edward V Quadros, Shao-Chiang Lai, Yasumi Nakayama, et al.Human Mutation|June 18, 2010
A mutation database for amyotrophic lateral sclerosisMakiko Yoshida, Yuji Takahashi, Asako Koike, et al.Human Mutation|October 2, 2010
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletionsFemke Hannes, Jeroen Van Houdt, Oliver W Quarrell, et al.Pageof 577