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Maki Fukami

Showing results (81-90 of 319) with videos related to

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Human Genome Variation|February 3, 2021
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadismSatoshi Tamaoka, Erina Suzuki, Atsushi Hattori, et al.
Sexual Medicine|August 19, 2025
Association between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university studentsMizuho Igarashi, Yuko Katoh-Fukui, Atsushi Hattori, et al.
Human Genome Variation|April 16, 2016
Genotype-phenotype correlation of PAX6 gene mutations in aniridiaTadashi Yokoi, Sachiko Nishina, Maki Fukami, et al.
Journal of Human Genetics|August 8, 2019
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformationDaisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, et al.
Pediatric Research|January 28, 2006
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysisMaki Fukami, Tomonobu Hasegawa, Reiko Horikawa, et al.
Journal of Human Genetics|August 8, 2014
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangementsShinichi Nakashima, Akira Ohishi, Fumio Takada, et al.
Breast Cancer (Tokyo, Japan)|April 30, 2013
Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancerMaki Fukami, Junichi Suzuki, Kazuhiko Nakabayashi, et al.
Endocrine Journal|October 4, 2013
Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex developmentShinichi Nakashima, Yoriko Watanabe, Junichiro Okada, et al.
Clinical Case Reports|November 21, 2018
<i>GATA4</i> variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex developmentDaisuke Shimizu, Satoru Iwashima, Keisuke Sato, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 21, 2015
SOX3 Overdosage Permits Normal Sex Development in Females with Random X InactivationMaki Igarashi, Hitoshi Mikami, Momori Katsumi, et al.
Pageof 32

Showing results (81-90 of 319) with videos related to

Sort By:
Pageof 32
Human Genome Variation|February 3, 2021
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadismSatoshi Tamaoka, Erina Suzuki, Atsushi Hattori, et al.
Sexual Medicine|August 19, 2025
Association between repeat number polymorphisms of sex hormone-related genes and gender phenotype variations in university studentsMizuho Igarashi, Yuko Katoh-Fukui, Atsushi Hattori, et al.
Human Genome Variation|April 16, 2016
Genotype-phenotype correlation of PAX6 gene mutations in aniridiaTadashi Yokoi, Sachiko Nishina, Maki Fukami, et al.
Journal of Human Genetics|August 8, 2019
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformationDaisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, et al.
Pediatric Research|January 28, 2006
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysisMaki Fukami, Tomonobu Hasegawa, Reiko Horikawa, et al.
Journal of Human Genetics|August 8, 2014
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangementsShinichi Nakashima, Akira Ohishi, Fumio Takada, et al.
Breast Cancer (Tokyo, Japan)|April 30, 2013
Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancerMaki Fukami, Junichi Suzuki, Kazuhiko Nakabayashi, et al.
Endocrine Journal|October 4, 2013
Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex developmentShinichi Nakashima, Yoriko Watanabe, Junichiro Okada, et al.
Clinical Case Reports|November 21, 2018
<i>GATA4</i> variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex developmentDaisuke Shimizu, Satoru Iwashima, Keisuke Sato, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|March 21, 2015
SOX3 Overdosage Permits Normal Sex Development in Females with Random X InactivationMaki Igarashi, Hitoshi Mikami, Momori Katsumi, et al.
Pageof 32