Lihadh Al-Gazali
11PUBLICATIONS
15CO-AUTHORS
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Publications (11)
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|Jan 06, 2022
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.Hanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi
|Dec 28, 2020
Life-threatening arrhythmias with autosomal recessive TECRL variants.Gregory Webster, Elhadi H Aburawi, Marie A Chaix
|Nov 14, 2019
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.Afif Ben-Mahmoud, Aisha M Al-Shamsi, Bassam R Ali
|Dec 07, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.Atteeq U Rehman, Maryam Najafi, Marios Kambouris
|Nov 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.Raida Khalil, Connor Kenny, R Sean Hill
|Oct 12, 2018
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.Hanadi A Abdelrahman, Aisha M Al-Shamsi, Bassam R Ali
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Frequent Collaborators
1 joint publications
P Bauer
1 joint publications
Christopher A Walsh
1 joint publications
Maria H Chahrour
1 joint publications
Miriam Schmidts
1 joint publications
Gregory Webster
1 joint publications
Elhadi H Aburawi
1 joint publications
Marie A Chaix
1 joint publications
Stephanie Chandler
1 joint publications
Roger Foo
1 joint publications
A K M Monwarul Islam
