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Yoichi Matsubara

Showing results (41-50 of 165) with videos related to

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Endocrine Journal|April 10, 2020
Long-term efficacy and safety of two doses of Norditropin<sup>®</sup> (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patientsReiko Horikawa, Tsutomu Ogata, Yoichi Matsubara, et al.
Human Genome Variation|June 15, 2018
Genitopatellar syndrome: the first reported case in JapanSatomi Okano, Akie Miyamoto, Ikue Fukuda, et al.
JMA Journal|March 22, 2021
Present State and Future Prospects of Pediatric Liver TransplantationsMureo Kasahara, Seisuke Sakamoto, Reiko Horikawa, et al.
Annals of Neurology|October 22, 2005
Adult Alexander's disease without leukoencephalopathyFabrizio Salvi, Yoko Aoki, Riccardo Della Nave, et al.
Clinical Dysmorphology|June 17, 2020
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida typeYoko Narumi-Kishimoto, Hiroshi Ozawa, Kumiko Yanagi, et al.
Molecular Genetics and Metabolism|January 27, 2012
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, et al.
Hormone Research in Paediatrics|August 1, 2015
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris HypopigmentationErina Suzuki, Yoko Izumi, Yuta Chiba, et al.
Journal of Human Genetics|May 3, 2005
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in JerusalemAvihu Boneh, Stanley H Korman, Kenichi Sato, et al.
Endocrine Journal|July 18, 2018
11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndromeTomoko Yoshida, Toshiya Matsuzaki, Mami Miyado, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 3, 2015
First Japanese case of Zellweger syndrome with a mutation in PEX14Shoko Komatsuzaki, Eishin Ogawa, Nobuyuki Shimozawa, et al.
Pageof 17

Showing results (41-50 of 165) with videos related to

Sort By:
Pageof 17
Endocrine Journal|April 10, 2020
Long-term efficacy and safety of two doses of Norditropin<sup>®</sup> (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patientsReiko Horikawa, Tsutomu Ogata, Yoichi Matsubara, et al.
Human Genome Variation|June 15, 2018
Genitopatellar syndrome: the first reported case in JapanSatomi Okano, Akie Miyamoto, Ikue Fukuda, et al.
JMA Journal|March 22, 2021
Present State and Future Prospects of Pediatric Liver TransplantationsMureo Kasahara, Seisuke Sakamoto, Reiko Horikawa, et al.
Annals of Neurology|October 22, 2005
Adult Alexander's disease without leukoencephalopathyFabrizio Salvi, Yoko Aoki, Riccardo Della Nave, et al.
Clinical Dysmorphology|June 17, 2020
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida typeYoko Narumi-Kishimoto, Hiroshi Ozawa, Kumiko Yanagi, et al.
Molecular Genetics and Metabolism|January 27, 2012
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, et al.
Hormone Research in Paediatrics|August 1, 2015
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris HypopigmentationErina Suzuki, Yoko Izumi, Yuta Chiba, et al.
Journal of Human Genetics|May 3, 2005
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in JerusalemAvihu Boneh, Stanley H Korman, Kenichi Sato, et al.
Endocrine Journal|July 18, 2018
11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndromeTomoko Yoshida, Toshiya Matsuzaki, Mami Miyado, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 3, 2015
First Japanese case of Zellweger syndrome with a mutation in PEX14Shoko Komatsuzaki, Eishin Ogawa, Nobuyuki Shimozawa, et al.
Pageof 17