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Nucleosides, Nucleotides & Nucleic Acids|December 3, 2011
Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutationsYasukazu Yamada, Kenichiro Yamada, Noriko Nomura, et al.American Journal of Medical Genetics. Part A|March 26, 2014
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathyMisako Naiki, Nobuhiko Ochi, Yusuke S Kato, et al.Journal of Medical Genetics|August 8, 2015
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionKenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosisKenichiro Yamada, Misako Naiki, Shin Hoshino, et al.Nucleosides, Nucleotides & Nucleic Acids|June 19, 2014
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentrationYasukazu Yamada, Noriko Nomura, Kenichiro Yamada, et al.Cerebral Cortex (New York, N.Y. : 1991)|October 12, 2018
Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral CortexKeiko Nakanishi, Hiroyuki Niida, Hidenori Tabata, et al.The Keio Journal of Medicine|April 15, 2021
Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20CKodai Abe, Takako Shimura, Toshiki Takenouchi, et al.Brain : a Journal of Neurology|May 3, 2018
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyYujiro Higuchi, Ryuta Okunushi, Taichi Hara, et al.American Journal of Medical Genetics. Part A|April 10, 2014
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populationsYasukazu Yamada, Noriko Nomura, Kenichiro Yamada, et al.Pageof 4