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Yohei Masunaga

Showing results (1-10 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|August 5, 2022
Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature reviewShinichiro Sano, Yohei Masunaga, Fumiko Kato, et al.
Diabetology International|January 29, 2025
Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitorYohei Masunaga, Kenichi Kinjo, Yuki Murai, et al.
Endocrine Journal|November 21, 2023
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literatureYohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 4, 2024
A novel <i>GNAS</i>-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidismShinichiro Sano, Shotaro Iwamoto, Rie Matsushita, et al.
European Journal of Medical Genetics|September 5, 2020
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcriptsHiroki Uchiyama, Yohei Masunaga, Takamichi Ishikawa, et al.
Journal of Human Genetics|March 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cellsToru Takagi, Sachiko Miyamoto, Kenji Shimizu, et al.
Journal of Human Genetics|June 11, 2021
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variantTakuya Hiraide, Taihei Tanaka, Yohei Masunaga, et al.
Journal of Human Genetics|March 22, 2022
ACAN biallelic variants in a girl with severe idiopathic short statureYohei Masunaga, Yumiko Ohkubo, Gen Nishimura, et al.
Journal of Human Genetics|October 25, 2019
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletionsAkira Ohishi, Yohei Masunaga, Shigeo Iijima, et al.
Brain & Development|July 25, 2025
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIOTakuya Hiraide, Taiju Hayashi, Kaori Yamoto, et al.
Pageof 4

Showing results (1-10 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|August 5, 2022
Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature reviewShinichiro Sano, Yohei Masunaga, Fumiko Kato, et al.
Diabetology International|January 29, 2025
Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitorYohei Masunaga, Kenichi Kinjo, Yuki Murai, et al.
Endocrine Journal|November 21, 2023
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literatureYohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|April 4, 2024
A novel <i>GNAS</i>-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidismShinichiro Sano, Shotaro Iwamoto, Rie Matsushita, et al.
European Journal of Medical Genetics|September 5, 2020
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcriptsHiroki Uchiyama, Yohei Masunaga, Takamichi Ishikawa, et al.
Journal of Human Genetics|March 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cellsToru Takagi, Sachiko Miyamoto, Kenji Shimizu, et al.
Journal of Human Genetics|June 11, 2021
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variantTakuya Hiraide, Taihei Tanaka, Yohei Masunaga, et al.
Journal of Human Genetics|March 22, 2022
ACAN biallelic variants in a girl with severe idiopathic short statureYohei Masunaga, Yumiko Ohkubo, Gen Nishimura, et al.
Journal of Human Genetics|October 25, 2019
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletionsAkira Ohishi, Yohei Masunaga, Shigeo Iijima, et al.
Brain & Development|July 25, 2025
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIOTakuya Hiraide, Taiju Hayashi, Kaori Yamoto, et al.
Pageof 4