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Publications by Apollonia T.J.M. Helderman‐van den Enden

A Mutation Update for the FLNC Gene in Myopathies and Cardiomyopathies

English

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Mutation Update for the GPC3 Gene Involved in Simpson-Golabi-Behmel Syndrome and Review of the Literature

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Gene Therapy in Monogenic Congenital Myopathies

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Cardiomyopathies Associated With the DES Gene Mutations: Molecular Pathogenesis and Gene Therapy Approaches

Almanac of Clinical Medicine

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Erratum: Cardiomyopathies With Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

Korean Circulation Journal

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Cardiovascular Medicine

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A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

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A National French Consensus on Gene Lists for the Diagnosis of Myopathies Using Next-Generation Sequencing

European Journal of Human Genetics

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A Report of a National Mutation Testing Service for the MEN1 Gene: Clinical Presentations and Implications for Mutation Testing

Journal of Medical Genetics

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An Unexpected FLNC Phenotype

Mayo Clinic Proceedings

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Cardiomyopathies - The Message for the 1980s

Postgraduate Medical Journal

English