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Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset.
Mansur A, Joseph R, Kim ES, Jean-Beltran PM, Udeshi ND, Pearce C, Jiang H, Iwase R, Milev MP, Almousa HA, McNamara E, Widrick J, Perez C, Ravenscroft G, Sacher M, Cole PA, Carr SA, Gupta VA. Mansur A, et al. Among authors: almousa ha. Elife. 2023 Jul 11;12:e81966. doi: 10.7554/eLife.81966. Elife. 2023. PMID: 37432316 Free PMC article.
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, McGavin L, Rowley C, Harlalka GV, Vancollie VE, Ahmad W, Lelliott CJ, Gul A, Yalcin B, Crosby AH, Sacher M, Baple EL. Rawlins LE, et al. PLoS Genet. 2022 Mar 17;18(3):e1010114. doi: 10.1371/journal.pgen.1010114. eCollection 2022 Mar. PLoS Genet. 2022. PMID: 35298461 Free PMC article.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
Awareness, Attitudes, and Willingness: A Cross-Sectional Study of Organ Donation in Saudi Arabia.
Alhasan K, Aljamaan F, Ajlan A, Aleid H, Al Ghoufi T, Alabbad SI, AlDhaferi RF, Almaiman W, Ali T, Hakami AA, Hakami RA, Alqarni BS, Alrashed AS, Alsharidi TR, Almousa HA, Altamimi I, Alhaboob A, Jamal A, Shalaby MA, Kari JA, Raina R, Broering DC, Temsah MH. Alhasan K, et al. Among authors: almousa ha. Healthcare (Basel). 2023 Dec 8;11(24):3126. doi: 10.3390/healthcare11243126. Healthcare (Basel). 2023. PMID: 38132016 Free PMC article.
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D, Goljan E; Rapid Exome Consortium; Assoum M, Albreacan M, Binhumaid F, Subhani S, Boureggah A, Hashem M, Abdulwahab F, Abuyousef O, Temsah MH, Alsohime F, Kelaher J, Abouelhoda M, Meyer BF, Alkuraya FS. Monies D, et al. Genome Med. 2023 Jun 21;15(1):44. doi: 10.1186/s13073-023-01192-5. Genome Med. 2023. PMID: 37344829 Free PMC article.
Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.
Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies. Aydin SE, et al. J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2. J Allergy Clin Immunol Pract. 2019. PMID: 30391550 Free PMC article.