Showing results (681-690 of 3,503) with videos related to
Sort By:
Pageof 351
Journal of Human Genetics|November 11, 2016
Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter studyMaria Teresa Ricci, Sara Miccoli, Daniela Turchetti, et al.Journal of Human Genetics|November 11, 2016
Comparative study of idursulfase beta and idursulfase in vitro and in vivoChihwa Kim, Jinwook Seo, Yokyung Chung, et al.Journal of Human Genetics|February 22, 2019
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disabilitySibel Aylin Ugur Iseri, Emrah Yucesan, Feyza Nur Tuncer, et al.Journal of Human Genetics|March 8, 2019
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndromeSato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, et al.Journal of Human Genetics|March 9, 2019
Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell modelJose Ichisima, Naoya M Suzuki, Bumpei Samata, et al.Journal of Human Genetics|November 24, 2018
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathyTakuya Miyabayashi, Tatsuhiro Ochiai, Naoki Suzuki, et al.Journal of Human Genetics|February 16, 2019
Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertilityLing Wu, Hua Chen, Da Li, et al.Journal of Human Genetics|February 17, 2017
Clinical diversity caused by novel IGHMBP2 variantsJun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, et al.Journal of Human Genetics|March 13, 2019
Gene regulation by antitumor miR-130b-5p in pancreatic ductal adenocarcinoma: the clinical significance of oncogenic EPS8Haruhi Fukuhisa, Naohiko Seki, Tetsuya Idichi, et al.Journal of Human Genetics|August 21, 2019
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese familyQin Wang, Jianming Zhang, Hui Wang, et al.Pageof 351