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The Tokai Journal of Experimental and Clinical Medicine|August 27, 2023
Ataxia Telangiectasia in a Patient with Breast Cancer: A Case ReportMari Mizuno, Yuko Ohnuki, Ai Unzaki, et al.Journal of Human Genetics|January 8, 2016
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 motherMariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, et al.Molecular Genetics & Genomic Medicine|March 5, 2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiencyCharlotte K Lautrup, Keng W Teik, Ai Unzaki, et al.Journal of Human Genetics|March 4, 2018
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndromeAi Unzaki, Naoya Morisada, Kandai Nozu, et al.Journal of Medical Genetics|November 24, 2021
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.Pageof 2