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Pascale Hilbert

3PUBLICATIONS
15CO-AUTHORS
Gene mappingMedical biotechnology diagnostics (incl. biosensors)Cardiology (incl. cardiovascular diseases)
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Journal

Publications (3)

Sort by Publication Date:
|Sep 26, 2024
Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.

Ilias Bensouna, Thomas Robert, Xavier Vanhoye

|Jan 31, 2023
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Judy Savige, Helen Storey, Elizabeth Watson

|Apr 15, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Judy Savige, Helen Storey, Elizabeth Watson

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Frequent Collaborators

2 joint publications

Judy Savige

2 joint publications

Helen Storey

2 joint publications

Constantinos Deltas

2 joint publications

Alessandra Renieri

2 joint publications

Louise Hopkinson

2 joint publications

Hansjorg Martin Rothe

2 joint publications

Julia Hoefele

2 joint publications

Samuela Landini

2 joint publications

Kathleen Claes

1 joint publications

Ilias Bensouna

Frequent Collaborators

2 joint publications

Judy Savige

2 joint publications

Helen Storey

2 joint publications

Constantinos Deltas

2 joint publications

Alessandra Renieri

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