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A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Al-Thihli K, Al Hashmi N, Al Balushi A, Al-Habsi A, Al-Ajmi E, Al-Jasmi F, Al-Murshedi F. Al-Thihli K, et al. Among authors: al balushi a, al jasmi f, al murshedi f, al habsi a, al hashmi n, al ajmi e. JIMD Rep. 2024 May 8;65(4):226-232. doi: 10.1002/jmd2.12426. eCollection 2024 Jul. JIMD Rep. 2024. PMID: 38974611 Free PMC article.
Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.
Al Balushi A, Al Hinai M, Al Hosni A, Al Amrani F, Al Maimani A, Al Maki N, Al Hashmi N. Al Balushi A, et al. Among authors: al hosni a, al hinai m, al maimani a, al maki n, al amrani f, al hashmi n. J Pediatr Genet. 2023 Feb 24;13(3):175-180. doi: 10.1055/s-0043-1764127. eCollection 2024 Sep. J Pediatr Genet. 2023. PMID: 39086452 Free PMC article.
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC. Chundru VK, et al. Among authors: al balushi ai. Nat Genet. 2024 Oct;56(10):2046-2053. doi: 10.1038/s41588-024-01910-8. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313616 Free PMC article.
Yellow Fever in South America - A Plea for Action and Call for Prevention in Travelers from SLAMVI, ESGITM, EVASG, ALEIMC, GEPI-SEIMC, SEMEVI, and CMTZMV-ACIN.
Rodriguez-Morales AJ, Alhazmi AH, Katime A, Hameed AA, Morales A, Lepetic AC, Risquez A, Forero-Delgadillo AJ, Holguin A, Faccini-Martínez ÁA, Guerrero A, Ribeiro A, Al Balushi A, Taylan Ozkan A, Rathish B, Diaz B, Porras-Pedroza BE, Hunsajarupan B, Lakatos B, Álvarez-Moreno C, Martinez CNT, Ronnberg C, Perret C, Wejse CM, Adhikari A, Popescu CP, Abbara A, Biscayart C, Bonilla-Aldana DK, Fasan D, Calderon D, de Luna D, Forero Peña D, Costescu-Strachinaru DI, Mendes Pedro D, Monk EJM, Iliaki E, Pontali E, Ngbede EO, Farkas FB, González-Sanz M, Escarrá F, Mariotti F, Norman FF, Di Gennaro F, Membrillo FJ, Arrieta G, Guido G, Fuster ÁV, Grandez-Castillo GA, Leblebicioglu H, de Jong HK, Vargas H, Kim JA, Cardona-Ospina JA, Torres J, Llenas-García J, Wagenhäuser I, Oteo JA, Gallegos Braun JF, Sepulveda-Arias JC, Hernandez JP, Ruíz Sáenz J, Nwofe JO, Kowalska J, Jackson KE, Aykac K, Rezzonico LF, Reyes LF, Frallonardo L, Krone M, Malagón MF, Sempere-Alcocer MA, Luque MT, Carlos M, Del Mar Faraco Oñorbe M, Segura Moreno M, Lauriola M, Masana M, Fernandez M, Martinez-Gutierrez M, Diaz-Menendez M, Martinez MJ, Cabada MM, Morante-Ruiz M, Alvarez-Martinez MJ, Sandoval-Paiz N, Chávez N… See abstract for full author list ➔ Rodriguez-Morales AJ, et al. Among authors: al balushi a. Travel Med Infect Dis. 2025 Jun 27:102871. doi: 10.1016/j.tmaid.2025.102871. Online ahead of print. Travel Med Infect Dis. 2025. PMID: 40582475 Free article. No abstract available.
Leishmaniasis in Syria - A call for action of the European Society for Clinical Microbiology and Infectious Diseases (ESCMID) Study Groups for Infections in Travellers and Migrants (ESGITM) and for Clinical Parasitology (ESGCP).
Abbara A, González-Sanz M, AlKharrat A, Khalife M, Elferruh Y, Almhawish N, Abbara S, Marroush S, Shortall C, Ahmed SH, Alhazmi A, Alvarez-Martinez MJ, Asaduzzaman M, Al Balushi A, Barboza AP, Brekke H, Di Carlo P, Cascio A, Chiodini P, Colpani A, Díaz-Menéndez M, Elkheir N, Farkas FB, Garg P, Grüner B, Guimarães AR, Holmberg V, Ioannou P, Jordão S, Kim JA, Lakatos B, Leblebicioglu H, Llenas-García J, Losada-Galván I, Martinez GE, Monk EJM, Nedu E, Nwofe JO, O'Regan R, Paggi R, Pinho JH, Pontali E, Priyadarshi M, Rath B, Rathish B, Rezzonico LF, Rizk N, Ronnberg C, Morante-Ruiz M, Salvati A, Scarso S, Sempere-Alcocer MA, Sepulcri C, Costescu Strachinaru DI, Tamarozzi F, Tavares R, Ursini T, Verweij JJ, Wejse CM, Rodriguez-Morales AJ; ESGITM and ESGCP. Abbara A, et al. Among authors: al balushi a. Travel Med Infect Dis. 2025 Apr 2;66:102849. doi: 10.1016/j.tmaid.2025.102849. Online ahead of print. Travel Med Infect Dis. 2025. PMID: 40185351 Free article. No abstract available.
126 results