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Page 1
Showing results for al shamsi
Search for Ali Shamisi instead (2 results)
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D,… See abstract for full author list ➔ Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: al shamsi am. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
In Reply.
Coomes EA, Al-Shamsi HO, Meyers BM, Alhazzani W, Alhuraiji A, Chemaly RF, Almuhanna M, Wolff RA, Ibrahim NK, Chua MLK, Hotte SJ, Elfiki T, Curigliano G, Eng C, Grothey A, Xie C. Coomes EA, et al. Among authors: al shamsi ho. Oncologist. 2020 Aug;25(8):e1252-e1253. doi: 10.1634/theoncologist.2020-0329. Epub 2020 May 27. Oncologist. 2020. PMID: 32378772 Free PMC article.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: al shamsi a. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
The Emirates Mars Mission.
Amiri HES, Brain D, Sharaf O, Withnell P, McGrath M, Alloghani M, Al Awadhi M, Al Dhafri S, Al Hamadi O, Al Matroushi H, Al Shamsi Z, Al Shehhi O, Chaffin M, Deighan J, Edwards C, Ferrington N, Harter B, Holsclaw G, Kelly M, Kubitschek D, Landin B, Lillis R, Packard M, Parker J, Pilinski E, Pramman B, Reed H, Ryan S, Sanders C, Smith M, Tomso C, Wrigley R, Al Mazmi H, Al Mheiri N, Al Shamsi M, Al Tunaiji E, Badri K, Christensen P, England S, Fillingim M, Forget F, Jain S, Jakosky BM, Jones A, Lootah F, Luhmann JG, Osterloo M, Wolff M, Yousuf M. Amiri HES, et al. Among authors: al shamsi m, al shamsi z. Space Sci Rev. 2022;218(1):4. doi: 10.1007/s11214-021-00868-x. Epub 2022 Feb 10. Space Sci Rev. 2022. PMID: 35194256 Free PMC article. Review.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: al shamsi am. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Breast Cancer in the United Arab Emirates.
Al-Shamsi HO, Abdelwahed N, Al-Awadhi A, Albashir M, Abyad AM, Rafii S, Afrit M, Al Lababidi B, Abu-Gheida I, Sonawane YP, Nijhawan NA, Haq UU, Dreier N, Joshua TLA, Iqbal F, Yacoub T, Nawaz FA, Abdul Jabbar D, Tirmazy SH, El-Shourbagy DM, Hamza D, Omara M, Al Madhi SAS, Ghazal H, Darr H, Oner M, Vlamaki Z, El Kinge AR, Ramanathan D, Judah M, Almahmeed T, Ahmad M, Jonnada SB, Almansoori N, Razek AA, Al-Hamadi A, Balalaa N, Jamali F, Singarachari RA, Labban A, Das K, Luiten EJT, Abdelgawad T, Al-Khatib F, Alrawi S, Jaafar H. Al-Shamsi HO, et al. JCO Glob Oncol. 2023 Jan;9:e2200247. doi: 10.1200/GO.22.00247. JCO Glob Oncol. 2023. PMID: 36608306 Free PMC article. Review. No abstract available.
Imaging features of Lipoblastoma.
Ambusaidi FM, Al-Mammari L, Al-Brashdi Y, Al-Shamsi RM. Ambusaidi FM, et al. Among authors: al shamsi rm. Int J Pediatr Adolesc Med. 2022 Mar;9(1):69-72. doi: 10.1016/j.ijpam.2021.05.004. Epub 2021 Jun 3. Int J Pediatr Adolesc Med. 2022. PMID: 35573075 Free PMC article.
286 results