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Publications by Riikka Kinos

Total C4B Deficiency Due to Gene Deletion and Gene Conversion in a Patient With Severe Infections

Clinical Diagnostic Laboratory Immunology

English

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MPP1/p55 Gene Deletion in a Hemophilia a Patient With Ectrodactyly and Severe Developmental Defects

American Journal of Hematology

English

Tyrosine Hydroxylase Deficiency—Clinical Insights and a Novel Deletion in TH Gene in an Indian Patient

Internal Medicine

Molecular Biology

English

C4B Deficiency Associated With Membranoproliferative Glomerulonephritis

Internal Medicine

Internal Medicine

English

Deletion of the SIM1 Gene (6q16.2) in a Patient With a Prader-Willi-Like Phenotype

Journal of Medical Genetics

English

Phenytoin-Associated Severe Hypocalcemia With Seizures in a Patient With aTSC2-PKD1contiguous Gene Syndrome

Intensive Care Medicine

English

Severe Combined Immunodeficiency Due to CARD11 Deficiency

English

A Novel Mc4r Deletion Coexisting With FTO and Mc1r Gene Variants, Causes Severe Early Onset Obesity

English

Prevalence of GH-1 Gene Deletion in Patients With Isolated Growth Hormone Deficiency in Japan.

Endocrine Journal

English

A Novel APOC2 Gene Mutation Identified in a Chinese Patient With Severe Hypertriglyceridemia and Recurrent Pancreatitis

Lipids in Health and Disease

Clinical Biochemistry

English