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Publications by Rachel S Honjo

Large Deletion in PIGL: A Common Mutational Mechanism in CHIME Syndrome?

Genetics and Molecular Biology
GeneticsMolecular Biology
2018English

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A Large PROP1 Gene Deletion in a Turkish Pedigree

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A Large Deletion in the CFTR Gene in CBAVD

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2006English

Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism

Molecular Syndromology
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2013English

Complement Activation in 22q11.2 Deletion Syndrome

Journal of Clinical Immunology
AllergyImmunology
2020English

The Mutational Spectrum of Lynch Syndrome in Cyprus

PLoS ONE
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2014English

Cryptic 5q Deletion in a Patient With Myelodysplastic Syndrome

British Journal of Haematology
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2017English

Acute Dystonia in a Patient With 22q11.2 Deletion Syndrome

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A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient With X-Linked Ichthyosis

Journal of Biomedical Science and Engineering
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Obesity in Adults With 22q11.2 Deletion Syndrome

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