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Maki Fukami

Showing results (41-50 of 319) with videos related to

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Pediatric Endocrinology Reviews : PER|April 11, 2014
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastiaMaki Fukami, Mami Miyado, Keisuke Nagasaki, et al.
The Journal of Clinical Endocrinology and Metabolism|January 19, 2006
Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the sonNaoko Sato, Kenji Ohyama, Maki Fukami, et al.
Genome Biology and Evolution|August 14, 2020
Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal RegionMaki Fukami, Yasuko Fujisawa, Hiroyuki Ono, et al.
Cytogenetic and Genome Research|July 2, 2025
Clustered Structural Variants Involving PHEX at Xp22 in a Female Patient with X-Linked HypophosphatemiaErika Uehara, Yasuhiro Naiki, Atsushi Hattori, et al.
Cytogenetic and Genome Research|April 22, 2025
Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1Michihiko Aramaki, Takashi Hamajima, Erina Suzuki, et al.
Journal of Human Genetics|August 19, 2008
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMRKazuki Yamazawa, Masayo Kagami, Maki Fukami, et al.
Endocrine Journal|October 26, 2012
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplificationKeisuke Nagasaki, Shuichi Tsuchiya, Akihiko Saitoh, et al.
Hormone Research in Paediatrics|June 14, 2014
Association between compound heterozygous mutations of SLC34A3 and hypercalciuriaYuki Abe, Keisuke Nagasaki, Toru Watanabe, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 10, 2025
Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testingErika Uehara, Kazuhisa Akiba, Keiko Matsubara, et al.
Journal of Clinical Research in Pediatric Endocrinology|January 19, 2016
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeGül Yeşiltepe Mutlu, Heves Kırmızıbekmez, Akie Nakamura, et al.
Pageof 32

Showing results (41-50 of 319) with videos related to

Sort By:
Pageof 32
Pediatric Endocrinology Reviews : PER|April 11, 2014
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastiaMaki Fukami, Mami Miyado, Keisuke Nagasaki, et al.
The Journal of Clinical Endocrinology and Metabolism|January 19, 2006
Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the sonNaoko Sato, Kenji Ohyama, Maki Fukami, et al.
Genome Biology and Evolution|August 14, 2020
Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal RegionMaki Fukami, Yasuko Fujisawa, Hiroyuki Ono, et al.
Cytogenetic and Genome Research|July 2, 2025
Clustered Structural Variants Involving PHEX at Xp22 in a Female Patient with X-Linked HypophosphatemiaErika Uehara, Yasuhiro Naiki, Atsushi Hattori, et al.
Cytogenetic and Genome Research|April 22, 2025
Kallmann Syndrome due to Balanced X Chromosomal Pericentric Inversion Disrupting ANOS1Michihiko Aramaki, Takashi Hamajima, Erina Suzuki, et al.
Journal of Human Genetics|August 19, 2008
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMRKazuki Yamazawa, Masayo Kagami, Maki Fukami, et al.
Endocrine Journal|October 26, 2012
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplificationKeisuke Nagasaki, Shuichi Tsuchiya, Akihiko Saitoh, et al.
Hormone Research in Paediatrics|June 14, 2014
Association between compound heterozygous mutations of SLC34A3 and hypercalciuriaYuki Abe, Keisuke Nagasaki, Toru Watanabe, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 10, 2025
Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testingErika Uehara, Kazuhisa Akiba, Keiko Matsubara, et al.
Journal of Clinical Research in Pediatric Endocrinology|January 19, 2016
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia SyndromeGül Yeşiltepe Mutlu, Heves Kırmızıbekmez, Akie Nakamura, et al.
Pageof 32