Maki Fukami

81PUBLICATIONS

91CO-AUTHORS

Developmental genetics (incl. sex determination)Optical technologyGene mappingEpigenetics (incl. genome methylation and epigenomics)Cancer genetics

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Publications (81)

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|May 29, 2026

GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.

|Apr 06, 2026

Clinical features of syndromic microphthalmia in two novel RARB variants.

Yoshito Koyanagi, Hazuki Morikawa-Anzai, Tomoyo Yoshida

|Jan 26, 2026

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature.

Chisato Narita, Hidekazu Utsunomiya, Junpei Hamada

|Jan 15, 2026

Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia.

Michihiko Aramaki, Hibiki Doi, Yuko Kato-Fukui

|Nov 19, 2025

Chromosomal and hormonal factors involved in human sexual dimorphism.

Maki Fukami, Kohji Okamura, Shoko Sasaki

|Oct 03, 2025

Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.

Wataru Tanikawa, Shingo Okamoto, Osamu Ohara

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Frequent Collaborators

25 joint publications

Tsutomu Ogata

13 joint publications

Hirotomo Saitsu

Masayo Kagami

Atsushi Hattori

Satoshi Narumi

Yoshihiro Hotta

Kazuhisa Akiba

Kazuhiko Nakabayashi

Tadashi Kaname

Mami Miyado

Frequent Collaborators

25 joint publications

Tsutomu Ogata

13 joint publications

Hirotomo Saitsu

8 joint publications

Masayo Kagami

6 joint publications

Atsushi Hattori