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Brain & Development|September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.Molecular Genetics and Metabolism|April 5, 2012
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafnessHitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, et al.Neurology|May 23, 2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathiesSatoko Miyatake, Hitoshi Osaka, Masaaki Shiina, et al.Proceedings of the National Academy of Sciences of the United States of America|July 24, 2023
NFIA in adipocytes reciprocally regulates mitochondrial and inflammatory gene program to improve glucose homeostasisYuta Hiraike, Kaede Saito, Misato Oguchi, et al.Cancer Genetics|June 12, 2022
A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndromeTakeshi Sano, Tomohiro Fukui, Noriyuki Makita, et al.Iscience|July 25, 2022
NFIA determines the <i>cis</i>-effect of genetic variation on Ucp1 expression in murine thermogenic adipocytesYuta Hiraike, Shuichi Tsutsumi, Takahito Wada, et al.Journal of Human Genetics|December 15, 2010
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failureAkira Nishimura-Tadaki, Takahito Wada, Gul Bano, et al.International Journal of Laboratory Hematology|November 11, 2021
Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndromeShumpei Mizuta, Noriko Yamane, Saya Mononobe, et al.Frontiers in Endocrinology|December 25, 2024
Case report: Duplication of the <i>GCK</i> gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7Takashi Shoji, Ichiro Yamauchi, Hidenori Kawasaki, et al.Epilepsia|October 5, 2010
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst patternHirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, et al.Pageof 8