Almundher Al-Maawali
16PUBLICATIONS
15CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (16)
Sort by Publication Date:
|Mar 16, 2026
Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.Fakhriya Al-Azri, Maryam Al-Rashdi, Fathiya Al-Murshedi
|Sep 16, 2025
Genetic Characterization of Primary Ciliary Dyskinesia in a Consanguineous Population: Insights From the Largest Middle Eastern Cohort.Kawther Al Adawi, Aliya Al Ansari, Nawal Al Shamli
|Apr 03, 2024
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene.Ghalia Al-Kasbi, Fathiya Al-Murshedi, Amna Al-Futaisi
|Nov 21, 2023
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.Almundher Al-Maawali, Fathiya Al-Murshedi, Amna Al-Futaisi
|Nov 14, 2023
A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder.Milo B Fasken, Sara W Leung, Lauryn A Cureton
|Nov 14, 2023
Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.Yusriya Al Rawahi, Omar Al Sunaidi, Mohammed Al-Masqari
Pageof 3
Frequent Collaborators
3 joint publications
Khalid Al-Thihli
1 joint publications
James J Dowling
1 joint publications
Joachim Füllekrug
1 joint publications
Ahmed Al-Qassabi
1 joint publications
Luisa Averdunk
1 joint publications
Gökhan Yigit
1 joint publications
Milo B Fasken
1 joint publications
Lauryn A Cureton
1 joint publications
Sohail Khoshnevis
1 joint publications
Homa Ghalei
