Polona Le Quesne Stabej
5PUBLICATIONS
39CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|Jan 19, 2026
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart
|Nov 05, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.Patrick Yap, Lisa G Riley, Purvi M Kakadia
|Mar 27, 2023
Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient.Tamsin J Robb, Peter Tsai, Sandra Fitzgerald
|Aug 17, 2021
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.Sinéad M McGlacken-Byrne, Polona Le Quesne Stabej, Ignacio Del Valle
Pageof 1
Frequent Collaborators
2 joint publications
Cristin G Print
1 joint publications
Sinéad M McGlacken-Byrne
1 joint publications
Ignacio Del Valle
1 joint publications
Mehul T Dattani
1 joint publications
John C Achermann
1 joint publications
Tamsin J Robb
1 joint publications
Peter Tsai
1 joint publications
Sandra Fitzgerald
1 joint publications
Paula Shields
1 joint publications
Pascalene S Houseman
