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Internal Medicine (Tokyo, Japan)|November 18, 2014
Chronic thromboembolic pulmonary hypertension complicated with homocystinuriaShinpei Ogawa, Tetsuji Katayama, Koichi Kaikita, et al.Journal of Human Genetics|October 31, 2007
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiencyMitsugu Uematsu, Osamu Sakamoto, Noriko Sugawara, et al.Journal of Human Genetics|November 7, 2009
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populationsSanae Numata, Yoshiro Koda, Kenji Ihara, et al.Biochimica Et Biophysica Acta|May 9, 2015
Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiencyMitsuaki Moriyama, Yuki Fujimoto, Shizuka Rikimaru, et al.Journal of Human Genetics|October 29, 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomaliesShin Hayashi, Issei Imoto, Yoshinori Aizu, et al.Pageof 11