Research output per year
Research output per year
Research output
Search results
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2022
Child With Congenital Generalized Lipodystrophy Type 4 for Electrophysiology Study and Catheter Ablation: Anesthetic Challenges
Al Aamri, I., Nagathan, S. D., Al-Abri, I. A., Al Murshedi, F. M. & Maddali, M. M., 2022, (Accepted/In press) In: Journal of Cardiothoracic and Vascular Anesthesia.Research output: Contribution to journal › Letter › peer-review
Open Access -
2020
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
AL-Futaisi, A., Ahmad, F., Al-Kasbi, G., Al-Thihli, K., Koul, R. & Al-Maawali, A., Apr 1 2020, In: Clinical Genetics. 97, 4, p. 666-667 2 p.Research output: Contribution to journal › Letter › peer-review
4 Citations (Scopus) -
Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants
Al-Murshedi, F., Mirza, H., Al-Saegh, A., Al-Nabhani, M., Al-Shabibi, S., Baawain, S., Al-Futaisi, A., Al-Shehhi, W. & Al-Maawali, A., Nov 1 2020, In: Clinical Genetics. 98, 5, p. 520-521 2 p.Research output: Contribution to journal › Letter › peer-review
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2019
Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene
Al-Marhoobi, R., Al-Musalhi, M., Naseem, S. U. R., Wali, Y., Alsayegh, A. & Al-Tamemi, S., Jan 1 2019, (Accepted/In press) In: Journal of Pediatric Hematology/Oncology.Research output: Contribution to journal › Letter › peer-review
4 Citations (Scopus) -
2016
Accredited genetic testing in the Arab Gulf region: Reinventing the wheel
Zayed, H. & Ouhtit, A., Jul 1 2016, In: Journal of Human Genetics. 61, 7, p. 673-674 2 p.Research output: Contribution to journal › Letter › peer-review
8 Citations (Scopus) -
2015
TNFRSF1A gene causing tumor necrosis factor receptor-associated periodic syndrome in 2 siblings displaying variable disease severity and discordant heterozygosity for an MEFV E148Q variant
Abdwani, R., Abdalla, E., Al Abrawi, S. & Al-Thihli, K., Aug 1 2015, In: Journal of Rheumatology. 42, 8, p. 1534-1535 2 p.Research output: Contribution to journal › Letter › peer-review
Open Access4 Citations (Scopus) -
2014
Myelodysplasia progressing to acute myeloid leukemia in monozygotic twins with monosomy 7 as sole abnormality
Udayakumar, A. M., Surekhatony, M. & Wali, Y. A., Nov 1 2014, In: Leukemia and Lymphoma. 55, 11, p. 2672-2674 3 p.Research output: Contribution to journal › Letter › peer-review
1 Citation (Scopus) -
2008
HIV disease presenting as a unilateral parotid gland swelling
Al-Maawali, A. A., Chacko, A. P., Javad, H., Fathalla, M., Shenoy, A. & Koul, R., Oct 2008, In: Indian Journal of Pediatrics. 75, 10, p. 1087-1088 2 p.Research output: Contribution to journal › Letter › peer-review
7 Citations (Scopus) -
2007
Biphenotypic leukemia with interstitial del(9)(q22q32) as a sole abnormality
Udayakumar, A. M., Pathare, A. V., Alkindi, S. & Raeburn, J. A., Oct 15 2007, In: Cancer Genetics and Cytogenetics. 178, 2, p. 170-172 3 p.Research output: Contribution to journal › Letter › peer-review
1 Citation (Scopus)