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Publications by Çiğdem S. Kasapkara

Harderoporphyria Due to Homozygosity for Coproporphyrinogen Oxidase Missense Mutation H327R

Journal of Inherited Metabolic Disease

English

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Homozygosity for a FBN1 Missense Mutation: Clinical and Molecular Evidence for Recessive Marfan Syndrome

European Journal of Human Genetics

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Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

American Journal of Human Genetics

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The Mitochondrial Localization of Coproporphyrinogen III Oxidase

Biochemical Journal

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The Substrate Radical ofEscherichia coliOxygen-independent Coproporphyrinogen III Oxidase HemN

Journal of Biological Chemistry

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Cytochrome C Oxidase Deficiency Due to Novel SCO2 Mutation Mimics Werdnig-Hoffmann Disease—Correction

Archives of Neurology

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Severe Meesmann’s Epithelial Corneal Dystrophy Phenotype Due to a Missense Mutation in the Helix-Initiation Motif of Keratin 12

Sensory Systems

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Lissencephaly Due to LIS1 Mutation

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Kinetic Alterations Due to a Missense Mutation in the Na,K-ATPase Α2 Subunit Cause Familial Hemiplegic Migraine Type 2

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Multiple Mechanisms for the Regulation of Haem Synthesis During Erythroid Cell Differentiation. Possible Role for Coproporphyrinogen Oxidase

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