Showing results (181-190 of 3,503) with videos related to
Sort By:
Pageof 351
Journal of Human Genetics|June 20, 2019
Overview of symptoms and treatment for lysinuric protein intoleranceAtsuko Noguchi, Tsutomu TakahashiJournal of Human Genetics|July 10, 2019
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndromeAntonia Howaldt, Sheela Nampoothiri, Dhanya Yesodharan, et al.Journal of Human Genetics|June 26, 2019
The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndromeFeifei Sun, Ken Higashimoto, Atsuko Awaji, et al.Journal of Human Genetics|June 27, 2019
Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA-VPS9D1 fusion transcripts in a Fanconi anemia patientDaijing Nie, Panxiang Cao, Fang Wang, et al.Journal of Human Genetics|July 6, 2019
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathyZhenXian Hu, Ying Zhu, Xiao Liu, et al.Journal of Human Genetics|July 6, 2019
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effectsMohamed S Abdel-Hamid, Mahmoud Y Issa, Hasnaa M Elbendary, et al.Journal of Human Genetics|February 15, 2022
A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathyLing Xu, Hongzhi Geng, Xiaoqing Lv, et al.Journal of Human Genetics|February 8, 2022
A clinical and genetic study of SPG31 in JapanTakanori Hata, Haitian Nan, Kishin Koh, et al.Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.Journal of Human Genetics|March 23, 2022
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and curesYuji Takahashi, Hidetoshi Date, Hideki Oi, et al.Pageof 351