Showing results (41-50 of 54) with videos related to
Sort By:
Pageof 6
Ophthalmic Genetics|April 1, 2020
A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocationKatsuhiro Hosono, Kazuhide Kawase, Kentaro Kurata, et al.Journal of Human Genetics|June 15, 2007
Three novel mutations of the PAX6 gene in Japanese aniridia patientsToshio Kawano, Chunxia Wang, Yoshihiro Hotta, et al.Journal of Human Genetics|September 10, 2020
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicismMuhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, et al.Lancet (London, England)|October 31, 2003
Role of TBX1 in human del22q11.2 syndromeHisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada, et al.Scientific Reports|May 31, 2018
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation SequencingKatsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, et al.Plos One|November 29, 2012
Prediction of protein-destabilizing polymorphisms by manual curation with protein structureCraig Alan Gough, Keiichi Homma, Yumi Yamaguchi-Kabata, et al.Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.Journal of Human Genetics|August 1, 2014
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patientsYang Zhao, Katsuhiro Hosono, Kimiko Suto, et al.Genomics|October 25, 2011
A prioritization analysis of disease association by data-mining of functional annotation of human genesTakayuki Taniya, Susumu Tanaka, Yumi Yamaguchi-Kabata, et al.Plos One|February 25, 2012
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese populationKatsuhiro Hosono, Chie Ishigami, Masayo Takahashi, et al.Pageof 6