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Yohei Masunaga

Showing results (11-20 of 31) with videos related to

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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 4, 2024
Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic <i>IRS1</i> frameshift variantYamato Osawa, Nobutaka Ichiwata, Junko Kenmotsu, et al.
Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Endocrine Journal|September 4, 2020
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature reviewYohei Masunaga, Yasuko Fujisawa, Mayumi Muramatsu, et al.
Journal of Human Genetics|October 17, 2020
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3Jessica Omark, Yohei Masunaga, Mark Hannibal, et al.
Endocrine Journal|February 15, 2021
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylationYohei Masunaga, Mie Mochizuki, Machiko Kadoya, et al.
Surgical Case Reports|February 1, 2024
Surgery for long tubular intestinal duplication with massive hemorrhage: a case report and literature reviewChiyoshi Toyama, Hiroto Mizushima, Kenichi Kinjo, et al.
Brain & Development|June 7, 2021
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylationTakuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al.
Clinical Epigenetics|April 8, 2021
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomniaYohei Masunaga, Masayo Kagami, Fumiko Kato, et al.
The Journal of Steroid Biochemistry and Molecular Biology|September 23, 2023
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosisYasuko Fujisawa, Yohei Masunaga, Wataru Tanikawa, et al.
The Journal of Steroid Biochemistry and Molecular Biology|April 3, 2025
Production of 11-ketotestosterone in childhood adrenal tumors with virilization or peripheral precocious puberty: Dominant expression of 11β-hydroxysteroid dehydrogenase type 2Yasuko Fujisawa, Shinichiro Sano, Yuki Murai, et al.
Pageof 4

Showing results (11-20 of 31) with videos related to

Sort By:
Pageof 4
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 4, 2024
Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic <i>IRS1</i> frameshift variantYamato Osawa, Nobutaka Ichiwata, Junko Kenmotsu, et al.
Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Endocrine Journal|September 4, 2020
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature reviewYohei Masunaga, Yasuko Fujisawa, Mayumi Muramatsu, et al.
Journal of Human Genetics|October 17, 2020
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3Jessica Omark, Yohei Masunaga, Mark Hannibal, et al.
Endocrine Journal|February 15, 2021
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylationYohei Masunaga, Mie Mochizuki, Machiko Kadoya, et al.
Surgical Case Reports|February 1, 2024
Surgery for long tubular intestinal duplication with massive hemorrhage: a case report and literature reviewChiyoshi Toyama, Hiroto Mizushima, Kenichi Kinjo, et al.
Brain & Development|June 7, 2021
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylationTakuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al.
Clinical Epigenetics|April 8, 2021
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomniaYohei Masunaga, Masayo Kagami, Fumiko Kato, et al.
The Journal of Steroid Biochemistry and Molecular Biology|September 23, 2023
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosisYasuko Fujisawa, Yohei Masunaga, Wataru Tanikawa, et al.
The Journal of Steroid Biochemistry and Molecular Biology|April 3, 2025
Production of 11-ketotestosterone in childhood adrenal tumors with virilization or peripheral precocious puberty: Dominant expression of 11β-hydroxysteroid dehydrogenase type 2Yasuko Fujisawa, Shinichiro Sano, Yuki Murai, et al.
Pageof 4