Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

240 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Incidence, Predictors, and Outcomes of Paravalvular Regurgitation after TAVR in Sievers Type-1 Bicuspid Aortic Valves.
Zito A, Buono A, Scotti A, Kim WK, Fabris T, de Biase C, Bellamoli M, Montarello N, Costa G, Alfadhel M, Koren O, Fezzi S, Bellini B, Massussi M, Bai L, Costa G, Mazzapicchi A, Giacomin E, Gorla R, Hug K, Briguori C, Bettari L, Messina A, Villa E, Boiago M, Romagnoli E, Orbach A, Laterra G, Aurigemma C, De Carlo M, Renker M, Gomez MG, Trani C, Ielasi A, Landes U, Rheude T, Testa L, Santos IA, Mangieri A, Saia F, Favero L, Chen M, Adamo M, Petronio AS, Montorfano M, Makkar RR, Mylotte D, Blackman DJ, Barbanti M, De Backer O, Tchètchè D, Tarantini G, Latib A, Maffeo D, Burzotta F. Zito A, et al. Among authors: alfadhel m. JACC Cardiovasc Interv. 2024 May 7:S1936-8798(24)00740-4. doi: 10.1016/j.jcin.2024.05.002. Online ahead of print. JACC Cardiovasc Interv. 2024. PMID: 38749449 Free article.
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Saleh MM, Hamhom AM, Al-Otaibi A, AlGhamdi M, Housawi Y, Aljadhai YI, Alameer S, Almannai M, Jad LA, Alwadei AH, Tabassum S, Alsaman A, AlAsmari A, Al Mutairi F, Althiyab H, Bashiri FA, AlHumaidi S, Alfadhel M, Mink JW, AlHashim A, Faqeih EA; Saudi NCL Study Consortium. Saleh MM, et al. Among authors: alfadhel m. Pediatr Neurol. 2024 Jun;155:149-155. doi: 10.1016/j.pediatrneurol.2024.03.004. Epub 2024 Mar 7. Pediatr Neurol. 2024. PMID: 38653183
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.
Al Yaarubi S, Alsagheir A, Al Shidhani A, Alzelaye S, Alghazir N, Brema I, Alsaffar H, Al Dubayee M, Alshahrani A, Abdelmeguid Y, Omar OM, Attia N, Al Amiri E, Al Jubeh J, Algethami A, Alkhayyat H, Haleem A, Al Yahyaei M, Khochtali I, Babli S, Nugud A, Thalange N, Albalushi S, Hergli N, Deeb A, Alfadhel M. Al Yaarubi S, et al. Among authors: alfadhel m. Orphanet J Rare Dis. 2024 Mar 13;19(1):118. doi: 10.1186/s13023-024-03084-2. Orphanet J Rare Dis. 2024. PMID: 38481246 Free PMC article.
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
Danish E, Alhashem A, Aljehani R, Aljawi A, Aldarwish MM, Al Mutairi F, Alfadhel M, Alrifai MT, Alobaisi S. Danish E, et al. Among authors: alfadhel m. Saudi J Ophthalmol. 2023 Sep 16;37(4):301-306. doi: 10.4103/sjopt.sjopt_108_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155673 Free PMC article.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: alfadhel m. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: alfadhel m. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.
Yuan T, Kumar S, Skinner M, Victor-Joseph R, Abuaita M, Keijer J, Zhang J, Kunkel TJ, Liu Y, Petrunak EM, Saunders TL, Lieberman AP, Stuckey JA, Neamati N, Al-Murshedi F, Alfadhel M, Spelbrink JN, Rodenburg R, de Boer VCJ, Lombard DB. Yuan T, et al. Among authors: alfadhel m. bioRxiv [Preprint]. 2023 Dec 8:2023.12.06.570371. doi: 10.1101/2023.12.06.570371. bioRxiv. 2023. PMID: 38105987 Free PMC article. Preprint.
Redo Transcatheter Aortic Valve Implantation in the Lotus Mechanically Expanded Transcatheter Heart Valve: Bench-Top Analysis, Clinical Experience, and Procedural Guidance.
Alfadhel M, Frawley C, Sathananthan J, de Backer O, Abdel-Wahab M, Abdelhafez A, Van Mieghem NM, van den Dorpel M, Arunothayaraj S, Hildick-Smith D, Blackman DJ. Alfadhel M, et al. Circ Cardiovasc Interv. 2023 Nov;16(11):e013296. doi: 10.1161/CIRCINTERVENTIONS.123.013296. Epub 2023 Nov 21. Circ Cardiovasc Interv. 2023. PMID: 37988436
240 results