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Makoto Ikejiri

Mie University

53

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A pediatric case of primary ciliary dyskinesia caused by novel copy number variation in PIH1D3.

2021 Auris Nasus Larynx
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Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations.

2021 Respiratory investigation
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Characteristics and serology of pregnant women with cytomegalovirus immunoglobulin G seroconversion during pregnancy in Japan.

2021 Taiwanese Journal of Obstetrics & Gynecology
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Primary cytomegalovirus infection during pregnancy and congenital infection: a population-based, mother-child, prospective cohort study.

2021 Journal of Perinatology
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A Pilot Proficiency Testing Study for Assessing Cancer Gene Panel using Patient Samples and Next-generation Sequencing in Japan

2021
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MPL exon 10 mutations other than canonical MPL W515L/K mutations identified by in-house MPL exon 10 direct sequencing in essential thrombocythemia.

2021 International Journal of Hematology
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A pediatric case of productive cough caused by novel variants in DNAH9

2021 Human genome variation
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Acquisition of JAK2 V617F to CALR-mutated clones accelerates disease progression and might enhance growth capacity.

2021 British Journal of Haematology
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Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia.

2021 Auris Nasus Larynx
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Clinical application of gene quantification technology in genetic testing

2020
- Makoto Ikejiri
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