Philip L Beales

8PUBLICATIONS
72CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)Clinical nutritionSolid tumoursStructural properties of condensed matterAutoimmunity
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (8)

|May 23, 2026
Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

|Apr 05, 2025
Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management.

Philip L Beales, Metin Cetiner, Andrea M Haqq

|Nov 24, 2023
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.

Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies

|Mar 03, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Zeineb Bakey, Oscar A Cabrera, Julia Hoefele

|Apr 30, 2021
Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation.

Clare L Thompson, Megan McFie, J Paul Chapple

|Jan 11, 2021
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.

Oksana Tsyklauri, Veronika Niederlova, Elizabeth Forsythe

Pageof 2

Frequent Collaborators

2 joint publications

Martina Huranova

1 joint publications

Wei Wei

1 joint publications

Salih Tuna

1 joint publications

Katherine R Smith