TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis
2015 · Scientific Reports · 27 citations
https://doi.org/10.1038/srep15165
M
Makiko Tsutsumi
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Makiko Tsutsumi is an academic researcher from Fujita Health University. The author has contributed to research in topics: Prenatal Screening and Diagnostics & Genomic variations and chromosomal abnormalities & DNA Repair Mechanisms. The author has an h-index of 22, co-authored 51 publications.
Papers by this author
worksIdentification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
2015 · Human Genome Variation · 11 citations
https://doi.org/10.1038/hgv.2015.3
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 · 9 citations
https://doi.org/10.1186/s12920-019-0640-2
Additional file 1: of Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report
2018 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.7460309
Additional file 1 of An aggressive systemic mastocytosis preceded by ovarian dysgerminoma
2020 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.13297200
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