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Scientific Reports|September 24, 2017
Microbiome profile of the amniotic fluid as a predictive biomarker of perinatal outcomeDaichi Urushiyama, Wataru Suda, Eriko Ohnishi, et al.Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, et al.Fertility and Sterility|July 28, 2014
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadismYoko Izumi, Erina Suzuki, Susumu Kanzaki, et al.The Journal of Investigative Dermatology|June 18, 2019
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant HeterozygotesAkiharu Kubo, Takashi Sasaki, Hisato Suzuki, et al.Human Mutation|September 10, 2016
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesMaki Igarashi, Kei Takasawa, Akiko Hakoda, et al.Molecular Genetics & Genomic Medicine|March 13, 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to ExonsKosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, et al.Cancer Reports (Hoboken, N.J.)|September 2, 2021
Genetic features of precursor B-cell phenotype Burkitt leukemia with IGH-MYC rearrangementMasanori Yoshida, Daisuke Tomizawa, Satoshi Yoshimura, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 21, 2016
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious PubertyHirohito Shima, Shuichi Yatsuga, Akie Nakamura, et al.Human Reproduction (Oxford, England)|March 21, 2024
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermiaYuki Muranishi, Yoshitomo Kobori, Yuko Katoh-Fukui, et al.Journal of Human Genetics|September 9, 2011
Identification of independent risk loci for Graves' disease within the MHC in the Japanese populationKazuhiko Nakabayashi, Atsushi Tajima, Ken Yamamoto, et al.Pageof 27