Guillermo Del Angel
5PUBLICATIONS
28CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variants.Mariam R Farman, Theodora Malli, Catherine Rehder
|Sep 14, 2024
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.Lothar Seefried, Anna Petryk, Guillermo Del Angel
|Jun 30, 2021
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.Hector Martín Merinero, Yuzhou Zhang, Emilia Arjona
|Mar 12, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.Guillermo Del Angel, John Reynders, Christopher Negron
|Jun 11, 2019
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.Guillermo Del Angel, Andrew T Hutchinson, Nina K Jain
Pageof 1
Frequent Collaborators
2 joint publications
Lothar Seefried
1 joint publications
Etienne Mornet
1 joint publications
Hector Martín Merinero
1 joint publications
Yuzhou Zhang
1 joint publications
Elena Gomez-Rubio
1 joint publications
Santiago Rodríguez de Córdoba
1 joint publications
Anna Petryk
1 joint publications
Peter Bauer
1 joint publications
Mariam R Farman
1 joint publications
Theodora Malli
