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
Profiles
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Functional Characterization of biallelic mutations of Centrobin as causative of Seckel-like syndrome
1/1/24 → 12/31/25
Project: Internal Grants (IG)
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Functional characterization of RYR3 mutations associated with neurodevelopment disorders.
1/1/19 → 12/31/20
Project: Internal Grants (IG)
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Identifying Genetic causes of Autosomal Recessive Intellectual Disability
1/1/16 → 12/31/20
Project: Consultancy project
Research output
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Expansion of Phenotypic Spectrum in Hyperphosphatemic Familial Tumoral Calcinosis
Purushothama, G., Bhavani, G. S. L., Shah, H., Girisha, K. M. & Handattu, K., Feb 15 2024, In: Indian Pediatrics. 61, 2, p. 186-188 3 p.Research output: Contribution to journal › Article › peer-review
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Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Majethia, P., Kaur, N., Mascarenhas, S., Rao, L. P., Pande, S., Narayanan, D. L., Bhat, V., Nayak, S. S., Nair, K. V., Prasannakumar, A. P., Chaurasia, A., Hunakunti, B., Jadhav, N., Farooqui, S., Yeole, M., Kothiwale, V., Naik, R., Bhat, V., Aroor, S., Lewis, L., & 12 others , Feb 19 2024, In: Clinical Genetics.Research output: Contribution to journal › Article › peer-review
Open Access -
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
Press/Media
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Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)
Khalid Al-Thihli, Amna ALfutaisi & Watfa AL-Moamari
11/21/23
1 item of Media coverage
Press/Media: Press / Media
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New Life Science Study Findings Recently Were Reported by Researchers at Sultan Qaboos University (Autosomal Recessive Notch3-related Leukodystrophy In Two Siblings and Review of the Literature)
Anuradha Ganesh, Khalid Al-Thihli & Amna ALfutaisi
11/2/23
1 item of Media coverage
Press/Media: Press / Media
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Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)
Khalid Al-Thihli, Fathiya AL-Murshedi & Azza Al-Shidhani
9/11/23
1 item of Media coverage
Press/Media: Press / Media