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Ikuma Fujiwara

Showing results (31-40 of 74) 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|October 3, 2024
CHARGE syndrome in a child with a <i>CHD7</i> variant and a novel pathogenic <i>SOX2</i> variant: A case reportMiki Kamimura, Hirohito Shima, Erina Suzuki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 9, 2025
Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severitiesJunko Kanno, Tomohiro Nakagawa, Akinobu Miura, et al.
Journal of the Neurological Sciences|October 2, 2010
A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataractIkuko Sato, Akira Onuma, Nobue Goto, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 8, 2020
Clinical Practice Guidelines for HypophosphatasiaToshimi Michigami, Yasuhisa Ohata, Makoto Fujiwara, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformationsYosuke Kakisaka, Kazuhiro Haginoya, Yuko Takahashi, et al.
Endocrine Journal|April 24, 2020
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in JapanShuichi Yatsuga, Naoko Amano, Akari Nakamura-Utsunomiya, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 12, 2024
A case of long-term survival of SADDAN treated with growth hormone for marked short statureJunko Kanno, Yu Katata, Sayaka Kawashima, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
Mutations in PIGL in a patient with Mabry syndromeIkuma Fujiwara, Yoshiko Murakami, Tetsuya Niihori, et al.
JBMR Plus|March 5, 2019
First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked HypophosphatemiaHae Il Cheong, Han-Wook Yoo, Masanori Adachi, et al.
Diabetology International|October 29, 2024
Questionnaire survey on severe hypoglycemia in pediatric patients with diabetes-English versionTatsuhiko Urakami, Tomoyuki Hotsubo, Yohei Ogawa, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 3, 2024
CHARGE syndrome in a child with a <i>CHD7</i> variant and a novel pathogenic <i>SOX2</i> variant: A case reportMiki Kamimura, Hirohito Shima, Erina Suzuki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 9, 2025
Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severitiesJunko Kanno, Tomohiro Nakagawa, Akinobu Miura, et al.
Journal of the Neurological Sciences|October 2, 2010
A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataractIkuko Sato, Akira Onuma, Nobue Goto, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|February 8, 2020
Clinical Practice Guidelines for HypophosphatasiaToshimi Michigami, Yasuhisa Ohata, Makoto Fujiwara, et al.
American Journal of Medical Genetics. Part A|December 15, 2012
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformationsYosuke Kakisaka, Kazuhiro Haginoya, Yuko Takahashi, et al.
Endocrine Journal|April 24, 2020
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in JapanShuichi Yatsuga, Naoko Amano, Akari Nakamura-Utsunomiya, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 12, 2024
A case of long-term survival of SADDAN treated with growth hormone for marked short statureJunko Kanno, Yu Katata, Sayaka Kawashima, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
Mutations in PIGL in a patient with Mabry syndromeIkuma Fujiwara, Yoshiko Murakami, Tetsuya Niihori, et al.
JBMR Plus|March 5, 2019
First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked HypophosphatemiaHae Il Cheong, Han-Wook Yoo, Masanori Adachi, et al.
Diabetology International|October 29, 2024
Questionnaire survey on severe hypoglycemia in pediatric patients with diabetes-English versionTatsuhiko Urakami, Tomoyuki Hotsubo, Yohei Ogawa, et al.
Pageof 8