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Yasutsugu Chinen | doi.page

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Yasutsugu Chinen

University of the Ryukyus(JP)University of the Ryukyus University Hospital(JP)

Publications by Year

Research Areas

Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Trypanosoma species research and implications, Prenatal Screening and Diagnostics

Most-Cited Works

→ Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future(2019)195 cited
→ Hematopoietic stem cell transplantation for Morquio A syndrome(2015)86 cited
→ Impact of enzyme replacement therapy and&nbsp;hematopoietic stem cell transplantation in&nbsp;patients with Morquio A syndrome(2015)73 cited
→ Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients(2019)67 cited
→ Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA(2014)64 cited
→ Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)(2017)64 cited
Morquio A syndrome: diagnosis and current and future therapies.

(2014)

→ Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome(2007)56 cited

→ Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)(2011)47 cited

→ Germline Mutation of CBL Is Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome‐Like Disorder(2014)40 cited