Concepedia

Ai Unzaki

AU

5

Publications

144

Citations

5

H-Index

2016

Active since

Affiliations

Kobe University(Current)

Shinshu University Hospital

Yokohama City University

The University of Tokyo

Ghent University Hospital

Ai Unzaki is an author at Kobe University specializing in genetics, medicine, and urology.

Top concepts

Publications per year

2016–2021

5

Publications

5

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

Ai Unzaki, Naoya Morisada, Kandai Nozu et al. · Journal of Human Genetics · 2018 · 51 citations

, , +9

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki et al. · Journal of Medical Genetics · 2021 · 35 citations · Full text

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

Charlotte Kvist Lautrup, Keng Wee Teik, Ai Unzaki et al. · Molecular Genetics & Genomic Medicine · 2020 · 27 citations · Full text

Impact of the State of Emergency during the COVID-19 Pandemic in 2020 on Asthma Exacerbations among Children in Kobe City, Japan

Hiroshi Yamaguchi, Kandai Nozu, Shinya Ishiko et al. · International Journal of Environmental Research and Public Health · 2021 · 18 citations · Full text

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

Mariko Taniguchi‐Ikeda, Yasuhiro Takeshima, Tomoko Lee et al. · Journal of Human Genetics · 2016 · 13 citations · Full text

, , +9

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