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Pediatrics International : Official Journal of the Japan Pediatric Society|March 18, 2005
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: the common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in JapaneseMasayo Kanai, Kazuki Kijima, Emi Shirahata, et al.Journal of Human Genetics|October 16, 2015
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysisDaisuke Ogino, Taeko Hashimoto, Motoshi Hattori, et al.European Journal of Medical Genetics|September 19, 2018
A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's diseaseYuichiro Miura, Tatsuya Watanabe, Toshihiko Uchida, et al.Journal of Human Genetics|September 28, 2012
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feedingHiroko Sato, Toshihiko Uchida, Kentaro Toyota, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 5, 2002
Association of the uteroglobin gene polymorphism with IgA nephropathyAkira Matsunaga, Chikahiko Numakura, Takako Kawakami, et al.Human Genetics|November 19, 2004
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2AKazuki Kijima, Chikahiko Numakura, Hiroko Izumino, et al.Journal of Human Genetics|November 4, 2025
PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?Kiyoshi Hayasaka, Ayako Sasaki, Yumiko Kishikawa, et al.Journal of Human Genetics|February 10, 2021
ALOX12 mutation in a family with dominantly inherited bleeding diathesisTetsuo Mitsui, Satoshi Makino, Gen Tamiya, et al.Internal Medicine (Tokyo, Japan)|August 16, 2012
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 geneYoshimi Takahashi, Shingo Koyama, Hidetomo Tanaka, et al.The Tohoku Journal of Experimental Medicine|December 23, 2016
Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance TestsHiroki Otsuka, Hideo Sasai, Elsayed Abdelkreem, et al.Pageof 11