Showing results (311-320 of 319) with videos related to
Sort By:
Pageof 32
You have reached the last page of results.This site can display upto 319 results.
Human Molecular Genetics|April 16, 2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationKohei Hamanaka, Atsushi Takata, Yuri Uchiyama, et al.Journal of Human Genetics|March 18, 2016
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosisHirohito Shima, Toshiaki Tanaka, Tsutomu Kamimaki, et al.Nature Genetics|May 7, 2024
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalitiesSatoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, et al.Nucleic Acids Research|November 28, 2023
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencingAtsushi Hijikata, Mikita Suyama, Shingo Kikugawa, et al.American Journal of Ophthalmology|May 8, 2026
Genotype-phenotype correlations in RPGRIP1-associated retinal dystrophy in a nationwide Japanese cohortKei Mizobuchi, Taiga Inooka, Takuya Aoki, et al.Orphanet Journal of Rare Diseases|October 30, 2014
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexEiko Nagata, Hiroki Kano, Fumiko Kato, et al.Nature Genetics|May 17, 2016
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7Satoshi Narumi, Naoko Amano, Tomohiro Ishii, et al.European Journal of Endocrinology|July 7, 2026
Diagnostic work-up in paediatric adrenocortical tumours: an international consensusSonir R Antonini, Verena Wiegering, Mariana P Halah, et al.Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer|June 14, 2025
Genomic profiles of pathogenic and moderate-penetrance germline variants associated with risk of early-onset lung adenocarcinomaHourin Cho, Kouya Shiraishi, Kuniko Sunami, et al.Pageof 32