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Journal of Human Genetics|February 22, 2021
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathyAlessia Nasca, Ivano Di Meo, Yakov Fellig, et al.Journal of Human Genetics|September 27, 2022
Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemiaRahyssa Rodrigues Sales, Bárbara Lisboa Nogueira, André Rolim Belisário, et al.Journal of Human Genetics|June 3, 2011
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsyKeiko Shimojima, Midori Sugawara, Minobu Shichiji, et al.Journal of Human Genetics|April 29, 2011
Pleiotropy of type 2 diabetes with obesitySandra J Hasstedt, Craig L Hanis, Swapan K Das, et al.Journal of Human Genetics|July 22, 2011
Different contributions of ancient mitochondrial and Y-chromosomal lineages in 'Karretjie people' of the Great Karoo in South AfricaCarina M Schlebusch, Michael de Jongh, Himla SoodyallJournal of Human Genetics|May 20, 2011
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populationsHiroshi Nakanishi, Masafumi Ohtsubo, Satoshi Iwasaki, et al.Journal of Human Genetics|May 20, 2011
Investigation of modifier genes within copy number variations in Rett syndromeRosangela Artuso, Filomena T Papa, Elisa Grillo, et al.Journal of Human Genetics|May 20, 2011
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joiningJunko Oshima, Jennifer A Lee, Amy M Breman, et al.Journal of Human Genetics|September 11, 2015
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disabilityVeronica Bertini, Francesca Cambi, Rossella Bruno, et al.Journal of Human Genetics|September 4, 2015
Overexpression of microRNA-133a inhibits ischemia-reperfusion-induced cardiomyocyte apoptosis by targeting DAPK2Sheng Li, Fang-Yi Xiao, Pei-Ren Shan, et al.Pageof 351