Mahmoud R Fassad
9PUBLICATIONS
127CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (9)
Sort by Publication Date:
|Feb 18, 2025
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.Maryke Schoonen, Mahmoud Fassad, Krutik Patel
|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati
|Jan 14, 2024
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.Michelle Bisschoff, Izelle Smuts, Marli Dercksen
|Aug 09, 2023
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.Mahmoud R Fassad, Nisreen Rumman, Katrin Junger
|Jul 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity.Lindsay A Wilson, William L Macken, Luke D Perry
|Apr 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.Nisreen Rumman, Mahmoud R Fassad, Corine Driessens
Pageof 2
Frequent Collaborators
6 joint publications
Hannah M Mitchison
3 joint publications
Francois H van der Westhuizen
2 joint publications
Maryke Schoonen
2 joint publications
Michelle Bisschoff
2 joint publications
Barend C Vorster
2 joint publications
Lindsay A Wilson
2 joint publications
Izelle Smuts
2 joint publications
Jane S Lucas
2 joint publications
Gabrielle Wheway
2 joint publications
Nisreen Rumman
