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Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).
Alfadhel M, Alhubayshi BS, Umair M, Alfaidi A, Alwadaani D, Aloyouni E, Abbas S, Abdulrahman AA, Aldrees M, Tuwaijri AA, Alharithy RS, Alajlan A, Alswaid A, Almohrij S, Al-Khenaizan S. Alfadhel M, et al. Among authors: umair m. Genet Mol Biol. 2025 Jan 20;48(1):e20240094. doi: 10.1590/1678-4685-GMB-2024-0094. eCollection 2025. Genet Mol Biol. 2025. PMID: 39846792
The introduction of the SARS-CoV-2 BA.4 lineage into Pakistan.
Rehman Z, Edington K, Jamal Z, Kritz-Wilson A, Dudas G, Sims S, Myers R, Afrough B, Inamdar L, Haider SA, Ikram A, Salman M, Umair M. Rehman Z, et al. Among authors: umair m. Arch Virol. 2025 Jan 6;170(2):26. doi: 10.1007/s00705-024-06211-3. Arch Virol. 2025. PMID: 39762542
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Laugwitz L, Buchert R, Olguín P, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB. Laugwitz L, et al. Among authors: umair m. Am J Hum Genet. 2025 Jan 2;112(1):168-180. doi: 10.1016/j.ajhg.2024.12.001. Am J Hum Genet. 2025. PMID: 39753114 Free PMC article.
Global, regional, and national age-sex-specific burden of diarrhoeal diseases, their risk factors, and aetiologies, 1990-2021, for 204 countries and territories: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Diarrhoeal Diseases Collaborators. GBD 2021 Diarrhoeal Diseases Collaborators. Lancet Infect Dis. 2024 Dec 18:S1473-3099(24)00691-1. doi: 10.1016/S1473-3099(24)00691-1. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39708822 Free article.
466 results