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Rie Kawamura

Fujita Health University

4

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10

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A Turner syndrome case associated with dic(Y;22).

2021 Molecular Cytogenetics
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A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

2020 Journal of Human Genetics
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A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

2019 BMC Medical Genomics
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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

2019 Case Reports in Obstetrics and Gynecology
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