Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Helen Storey

2PUBLICATIONS

9CO-AUTHORS

Medical biotechnology diagnostics (incl. biosensors)Cardiology (incl. cardiovascular diseases)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (2)

Sort by Publication Date:

|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

Pageof 1

Frequent Collaborators

2 joint publications

Judy Savige

2 joint publications

Constantinos Deltas

2 joint publications

Alessandra Renieri

2 joint publications

Pascale Hilbert

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

Frequent Collaborators

2 joint publications

Judy Savige

2 joint publications

Constantinos Deltas

2 joint publications

Alessandra Renieri

2 joint publications

Pascale Hilbert

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

See more related videos

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

See more related videos