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American Journal of Medical Genetics. Part A|February 19, 2015
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)Megumi Yoshimura-Furuhata, Akira Nishimura-Tadaki, Yoshiro Amano, et al.American Journal of Medical Genetics. Part A|April 22, 2021
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosisHiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, et al.Journal of Human Genetics|February 21, 2007
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiencyKeiji Kurokawa, Tohru Yorifuji, Masahiko Kawai, et al.Disease Models & Mechanisms|December 1, 2021
A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editingYuko Nitahara-Kasahara, Shuji Mizumoto, Yukiko U Inoue, et al.American Journal of Medical Genetics. Part A|January 19, 2006
BAC array CGH reveals genomic aberrations in idiopathic mental retardationNoriko Miyake, Osamu Shimokawa, Naoki Harada, et al.Human Mutation|June 10, 2010
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndromeNoriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al.American Journal of Medical Genetics. Part A|October 3, 2022
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing systemTomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, 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 Medical Genetics. Part A|May 3, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literatureTomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Journal of Human Genetics|October 29, 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomaliesShin Hayashi, Issei Imoto, Yoshinori Aizu, et al.Pageof 17