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Journal of Human Genetics|October 21, 2021
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancerKeiko Hikino, Masaru Koido, Nao Otomo, et al.Journal of Human Genetics|February 3, 2022
Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptidesTetsuro Hikichi, Michiko Sakamoto, Makiko Harada, et al.Journal of Human Genetics|March 22, 2022
Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infectionBruno Toson, Rafael T Michita, Maria C T Matte, et al.Journal of Human Genetics|March 30, 2022
Genome-wide association study of primary dysmenorrhea in the Taiwan Biobank validates associations near the NGF and IL1 gene lociChien-Chang Lee, Meng-Tse Gabriel Lee, I-Hsuan Huang, et al.Journal of Human Genetics|April 16, 2022
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicingXinxin Zhang, Xiangliang Chen, Jie Chen, et al.Journal of Human Genetics|September 6, 2018
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencingDiana Matías-Pérez, Leopoldo A García-Montaño, Marisa Cruz-Aguilar, et al.Journal of Human Genetics|September 6, 2018
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disabilityMelinda Zombor, Tibor Kalmár, Zoltán Maróti, et al.Journal of Human Genetics|August 18, 2018
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD)Kun Wang, Sen Zhao, Qianqian Zhang, et al.Journal of Human Genetics|August 23, 2018
Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testingXiuju Yin, Yang Du, Han Zhang, et al.Journal of Human Genetics|June 20, 2019
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variantYuri Uchiyama, Chong A Kim, Antonio Carlos Pastorino, et al.Pageof 352