Projects per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Identifying Genetic causes of Autosomal Recessive Intellectual Disability
Project: Other project
-
Functional Characterization of Clinically Relevant Genetic Variants
Project: Other project
-
Functional characterization of RYR3 mutations associated with neurodevelopment disorders.
1/1/19 → 12/31/20
Project: Internal Grants (IG)
-
Identifying Genetic causes of Autosomal Recessive Intellectual Disability
1/1/16 → 12/31/20
Project: Consultancy project
-
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
Al Jabry, T., Al-Hashmi, N., Abdelhadi, B. & Al-Maawali, A., Feb 1 2024, In: European Journal of Medical Genetics. 67, 104903.Research output: Contribution to journal › Review article › peer-review
Open Access -
A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease
Alshekaili, J., Nasr, I., Al-Rawahi, M., Ansari, Z., Al Rahbi, N., Al Balushi, H., Al-Zadjali, S., Al Kindi, M., Al-Maawali, A. & Cook, M. C., Jul 1 2023, In: Clinical Immunology. 252, p. 109646 109646.Research output: Contribution to journal › Article › peer-review
Open Access -
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature
Al-Amrani, F., Al-Maawali, A., Al-Thihli, K., Al-Ajmi, E., Ganesh, A. & Al futaisi, A., Nov 1 2023, In: Pediatric Neurology. 148, p. 73-80 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
Al-Maawali, A., Al-Murshedi, F., Al-Futaisi, A., Mansy, A., Al-Habsi, A. & Girisha, K. M., Nov 20 2023, In: European Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy
Al Rawahi, Y., Al Sunaidi, O., Al-Masqari, M., Al Jamei, A., Rahamtalla, D. & Al-Maawali, A., Nov 13 2023, In: American Journal of Medical Genetics, Part A. 194, 3, e63474.Research output: Contribution to journal › Article › peer-review