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Publications by Erik T Tambuyzer

The Biopontis Alliance Rare Disease Foundation (BARDF) – An Innovative Model for Early Stage Rare Disease Therapy Financing and Development

Orphanet Journal of Rare Diseases

English

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An Atypical Presentation of a Rare Disease

JAAD Case Reports

English

Rare Disease Landscape: Will the Blockbuster Model Be Replaced?

Expert Opinion on Orphan Drugs

English

Personalised Analytics for Rare Disease Diagnostics

Nature Communications

Molecular Biology

English

An Ontological Foundation for Ocular Phenotypes and Rare Eye Diseases

Orphanet Journal of Rare Diseases

English

P430 Identifying Rare Disease Research Priorities Through (RAinDRoP) a Rare Disease Research Partnership

English

Rare Disease Genes—Lessons and Challenges

Genome Research

English

Moyamoya Disease: A Rare Vascular Disease of the CNS

English

Kimura Disease - A Rare Case

Journal of Evolution of Medical and Dental sciences

English

Homozygous Familial Hypercholesterolemia “Rare Disease”

Journal of Glycomics & Lipidomics

English