Bader Alhaddad
8PUBLICATIONS
58CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|Nov 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore
|Oct 07, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.Luba M Pardo, Javier Martini, Emir Zonic
|Sep 05, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.Matthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr
|Aug 18, 2020
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.Christiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt
|Jun 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco
|Jan 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad
Pageof 2
Frequent Collaborators
2 joint publications
Fowzan S Alkuraya
1 joint publications
Ayman W El-Hattab
1 joint publications
Mohammed A Al-Muhaizea
1 joint publications
Samantha A Schrier Vergano
1 joint publications
Saskia B Wortmann
1 joint publications
Holger Prokisch
1 joint publications
Johannes A Mayr
1 joint publications
Sander Pajusalu
1 joint publications
Richard J Rodenburg
1 joint publications
Catherine Fallet-Bianco
