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Akiko Nakatomi

Nagasaki University

14

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192

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A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

2018 Journal of Human Genetics
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Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation

2017 Journal of Human Genetics
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Maternally derived 15q11.2-q13.1 duplication and H19 -DMR hypomethylation in a patient with Silver–Russell syndrome

2017 Journal of Human Genetics
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Genetic background of hyperphenylalaninemia in Nagasaki, Japan

2016 Pediatrics International
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Kawasaki disease-associated MERS: pathological insights from SPECT findings.

2012 Brain & Development
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Case report Kawasaki disease-associated MERS: Pathological insights from SPECT findings

2012 Brain & Development
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Pancreatic head resection preserving the main pancreatic duct for congenital hyperinsulinism of infancy

2012 Pediatric Surgery International
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Spine and rib abnormalities and stature in spondylocostal dysostosis.

2006 Spine
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Favorable outcome in a case of perinatal enterovirus 71 infection.

2002 Pediatric Infectious Disease Journal
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Transitional pre-B-cell ALL

2001 The Japanese journal of clinical hematology
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