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Sumito Dateki

Nagasaki University

50

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622

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A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.

2020 Endocrine Journal
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Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism.

2020 Journal of Pediatric Endocrinology and Metabolism
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Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia

2020 Human genome variation
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Efficacy and Safety of Denosumab Treatment in a Boy with Cherubism

2019
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

2019 Journal of Human Genetics
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Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) gene

2019 Journal of Diabetes
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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

2019 Journal of Human Genetics
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Droplet Digital PCR is a Useful Method for Detection of Mosaic Mutations in Patients with McCune-Albright Syndrome

2019
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A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency

2019 Journal of Human Genetics
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Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood

2019 Endocrine Journal
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