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Maki Fukami

Showing results (91-100 of 319) with videos related to

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Cytogenetic and Genome Research|June 15, 2025
ACAN Repeat Number Polymorphism in Patients with Idiopathic Short StatureSayuri Nakamura, Yoko Kuroki, Kyongsun Pak, et al.
Journal of Human Genetics|May 25, 2012
Haplotype analysis of ESR2 in Japanese patients with spermatogenic failureTsutomu Ogata, Maki Fukami, Rie Yoshida, et al.
European Journal of Endocrinology|August 11, 2021
Quantification of androgens and their precursors in full-term human placentaTomoko Yoshida, Kenji Matsumoto, Mami Miyado, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 21, 2019
A case report and literature review of monoallelic mutation of GHRMarie Mitani, Hirohito Shima, Takeshi Sato, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 12, 2020
A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)Monica Reyes, Masayo Kagami, Sayaka Kawashima, 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 the Endocrine Society|January 31, 2018
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type IShinichiro Sano, Akie Nakamura, Keiko Matsubara, et al.
Frontiers in Endocrinology|July 3, 2025
<i>De novo</i> retrotransposon insertion into the <i>FGFR1</i> gene in a boy with congenital hypogonadotropic hypogonadism: a case reportKentaro Sawano, Keisuke Nagasaki, Erina Suzuki, et al.
Cytogenetic and Genome Research|May 26, 2023
Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal TranslocationYasuko Ogiwara, Atsushi Hattori, Kento Ikegawa, et al.
Endocrine Journal|December 3, 2009
Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutationKoji Muroya, Takahiro Mochizuki, Maki Fukami, et al.
Pageof 32

Showing results (91-100 of 319) with videos related to

Sort By:
Pageof 32
Cytogenetic and Genome Research|June 15, 2025
ACAN Repeat Number Polymorphism in Patients with Idiopathic Short StatureSayuri Nakamura, Yoko Kuroki, Kyongsun Pak, et al.
Journal of Human Genetics|May 25, 2012
Haplotype analysis of ESR2 in Japanese patients with spermatogenic failureTsutomu Ogata, Maki Fukami, Rie Yoshida, et al.
European Journal of Endocrinology|August 11, 2021
Quantification of androgens and their precursors in full-term human placentaTomoko Yoshida, Kenji Matsumoto, Mami Miyado, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 21, 2019
A case report and literature review of monoallelic mutation of GHRMarie Mitani, Hirohito Shima, Takeshi Sato, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 12, 2020
A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)Monica Reyes, Masayo Kagami, Sayaka Kawashima, 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 the Endocrine Society|January 31, 2018
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type IShinichiro Sano, Akie Nakamura, Keiko Matsubara, et al.
Frontiers in Endocrinology|July 3, 2025
<i>De novo</i> retrotransposon insertion into the <i>FGFR1</i> gene in a boy with congenital hypogonadotropic hypogonadism: a case reportKentaro Sawano, Keisuke Nagasaki, Erina Suzuki, et al.
Cytogenetic and Genome Research|May 26, 2023
Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal TranslocationYasuko Ogiwara, Atsushi Hattori, Kento Ikegawa, et al.
Endocrine Journal|December 3, 2009
Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutationKoji Muroya, Takahiro Mochizuki, Maki Fukami, et al.
Pageof 32