Marina T DiStefano

3PUBLICATIONS
40CO-AUTHORS
Inter-organisational, extra-organisational and global information systemsLinguistic structures (incl. phonology, morphology and syntax)Query processing and optimisation
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Publications (3)

|Dec 20, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Reece K Hart, Ivo F A C Fokkema, Marina DiStefano

|Jun 05, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Jun Shen, Andrea M Oza, Ignacio Del Castillo

|Oct 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Michael A Iacocca, Joana R Chora, Alain Carrié

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Frequent Collaborators

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Reece K Hart

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Ivo F A C Fokkema

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Ros Hastings

1 joint publications

Jeroen F J Laros