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Publications by Romy Keppler

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

American Journal of Human Genetics

English

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The Clinical Spectrum of Thyrotropin Receptor Gene (TSHR) Mutations

English

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes

Arteriosclerosis, Thrombosis, and Vascular Biology

Cardiovascular Medicine

English

Genetic and Clinical Aspects of Zellweger Spectrum Patients With PEX1 Mutations

Journal of Medical Genetics

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Rubinstein-Taybi 2 Associated to Novel EP300 Mutations: Deepening the Clinical and Genetic Spectrum

BMC Medical Genetics

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Expanding the Spectrum of IDH1 Mutations in Gliomas

Modern Pathology

Forensic Medicine

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Molecular Analysis of HPRT Deficiencies: Six Novel Mutations and the Spectrum of Asian Mutations

Gout and Nucleic Acid Metabolism

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Insertion and Deletion Mutations in the repA4 Region of the IncFII Plasmid NR1 Cause Unstable Inheritance.

Journal of Bacteriology

Molecular Biology

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Five New Cases of Syndromic Intellectual Disability Due to KAT6A Mutations: Widening the Molecular and Clinical Spectrum

Orphanet Journal of Rare Diseases

English

The Expanding Spectrum of Clinical Phenotypes Associated With PSTPIP1 Mutations: From PAPA to PAMI Syndrome and Beyond

British Journal of Dermatology

English