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Journal of Human Genetics|March 3, 2017
Prevalence of four Mendelian disorders associated with autism in 2392 affected familiesAvi Saskin, Vanessa Fulginiti, Ashley H Birch, et al.Journal of Human Genetics|June 5, 2008
Adiponectin gene ADIPOQ SNP associations with serum adiponectin in two female populations and effects of SNPs on promoter activityTheodosios Kyriakou, Laura J Collins, Nicola J Spencer-Jones, et al.Journal of Human Genetics|September 5, 2019
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathyAlejandro J Brea-Fernández, Paloma Cabanas, David Dacruz-Álvarez, et al.Journal of Human Genetics|August 8, 2019
A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cordChengyuan Song, Linliu Peng, Shengjun Wang, et al.Journal of Human Genetics|June 11, 1998
Retrotransposal integration of mobile genetic elements in human diseasesY MikiJournal of Human Genetics|June 11, 1998
Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinomaS Shirahama, K Ogura, H Takami, et al.Journal of Human Genetics|June 11, 1998
Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in JapaneseH Nishigori, S Yamada, T Kohama, et al.Journal of Human Genetics|June 11, 1998
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type IIK Yamamoto, Y Soeda, T Kamisako, et al.Journal of Human Genetics|June 11, 1998
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxiaY Shimada, S Okuno, A Kawai, et al.Journal of Human Genetics|June 11, 1998
Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) geneS Ishikawa, M Kai, Y Murata, et al.Pageof 352