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Journal of Human Genetics|August 23, 2006
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3Ronen Spiegel, Arash Ghalamkarpour, Etty Daniel-Spiegel, et al.
Journal of Human Genetics|April 12, 2007
Cytochrome P450 1A1 (CYP1A1) T3801C and A2455G polymorphisms in breast cancer risk: a meta-analysisChengwen Chen, Yan Huang, Yao Li, et al.
Journal of Human Genetics|September 8, 2007
SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese populationYukiko Sakamoto, Hiroshi Inoue, Parvaneh Keshavarz, et al.
Journal of Human Genetics|December 2, 2016
Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertilityAlberto Gómez-Carballa, Jacobo Pardo-Seco, Federico Martinón-Torres, et al.
Journal of Human Genetics|August 13, 2020
Artificial intelligence powered statistical genetics in biobanksAkira Narita, Masao Ueki, Gen Tamiya
Journal of Human Genetics|April 14, 2023
Genotyping, characterization, and imputation of known and novel CYP2A6 structural variants using SNP array dataAlec W R Langlois, Ahmed El-Boraie, Jennie G Pouget, et al.
Journal of Human Genetics|April 18, 2023
Recontact: a survey of current practices and BRCA1/2 testing in JapanTomohiro Sakaguchi, Tomoharu Tokutomi, Akiko Yoshida, et al.
Journal of Human Genetics|March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutationDavide Tonduti, Eleonora Mura, Silvia Masnada, et al.
Journal of Human Genetics|July 12, 2020
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)Edoardo Errichiello, Guido Zagnoli-Vieira, Romana Rizzi, et al.
Journal of Human Genetics|August 2, 2020
Genetics experience impacts attitudes towards germline gene editing: a survey of over 1500 members of the publicAbbie Jedwab, Danya F Vears, Cheryl Tse, et al.
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