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Journal of Human Genetics|September 19, 2020
GWA-based pleiotropic analysis identified potential SNPs and genes related to type 2 diabetes and obesityYong Zeng, Hao He, Lan Zhang, et al.Journal of Human Genetics|November 4, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonographyHiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, et al.Journal of Human Genetics|July 13, 2022
Genetics of brain arteriovenous malformations and cerebral cavernous malformationsHiroki Hongo, Satoru Miyawaki, Yu Teranishi, et al.Journal of Human Genetics|July 27, 2022
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort studyBin Liang, Donghong Yu, Wantong Zhao, et al.Journal of Human Genetics|July 27, 2022
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasiaGhada M H Abdel-Salam, Marian Girgis, Maha M Eid, et al.Journal of Human Genetics|February 5, 2016
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndromeHiroshi Maeda, Tomohiro Chiyonobu, Michiko Yoshida, et al.Journal of Human Genetics|February 5, 2016
New massive parallel sequencing approach improves the genetic characterization of congenital myopathiesJorge Oliveira, Ana Gonçalves, Ricardo Taipa, et al.Journal of Human Genetics|January 15, 2016
A novel de novo POGZ mutation in a patient with intellectual disabilityBo Tan, Yongyi Zou, Yue Zhang, et al.Journal of Human Genetics|January 15, 2016
Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglycerideMakoto Kurano, Kazuhisa Tsukamoto, Shigeo Kamitsuji, et al.Journal of Human Genetics|January 15, 2016
Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controlsMitchell J Machiela, Weiyin Zhou, Neil Caporaso, et al.Pageof 351