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Page 1
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Al Shidhani A, Al Hinai A, Al Thihli K, Al Mandhari H, Al Yaarubi S, Ullah I, Al-Hashmi N, Al Murshedi F. Al Shidhani A, et al. Among authors: al mandhari h, al murshedi f, al yaarubi s, al hinai a, al thihli k, al hashmi n. J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):302-306. doi: 10.4274/jcrpe.galenos.2021.2021.0173. Epub 2021 Nov 5. J Clin Res Pediatr Endocrinol. 2023. PMID: 34738771 Free PMC article.
Rigid Spine Syndrome among Children in Oman.
Koul R, Sankhla D, Al-Jahdhami S, Mani R, Rahim RA, Al-Yaarubi S, Al-Kindy H, Al-Thihli K, Al-Futaisi A. Koul R, et al. Among authors: al futaisi a, al kindy h, al yaarubi s, al thihli k, al jahdhami s. Sultan Qaboos Univ Med J. 2015 Aug;15(3):e364-9. doi: 10.18295/squmj.2015.15.03.010. Epub 2015 Aug 24. Sultan Qaboos Univ Med J. 2015. PMID: 26357557 Free PMC article.
Guidelines for acute management of hyperammonemia in the Middle East region.
Alfadhel M, Mutairi FA, Makhseed N, Jasmi FA, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T. Alfadhel M, et al. Among authors: al hassnan zn, al murshedi f, al thihli k, al jishi e. Ther Clin Risk Manag. 2016 Mar 31;12:479-87. doi: 10.2147/TCRM.S93144. eCollection 2016. Ther Clin Risk Manag. 2016. PMID: 27099506 Free PMC article.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A… See abstract for full author list ➔ Monies D, et al. Among authors: al mayouf sm, al murshedi f, al tala s, al mutairi f, al thihli k, al kindy a, al dekhail w, al owain m, al mehaidib a, al mousa h, al saud bk, al muhaizea ma, al hajjar s. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Bruwer Z, Al Riyami N, Al Dughaishi T, Al Murshedi F, Al Sayegh A, Al Kindy A, Meftah D, Al Kharusi K, Al Foori A, Al Yarubi N, Scott P, Al-Thihli K. Bruwer Z, et al. Among authors: al riyami n, al murshedi f, al dughaishi t, al foori a, al yarubi n, al kharusi k, al thihli k, al kindy a, al sayegh a. J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124. J Perinat Med. 2018. PMID: 28822227
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Al-Nabhani M, Al-Rashdi S, Al-Murshedi F, Al-Kindi A, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Zadjali F, Al-Maawali A. Al-Nabhani M, et al. Among authors: al mamari w, al futaisi a, al murshedi f, al maawali a, al rashdi s, al thihli k, al kindi a, al saegh a. Clin Genet. 2018 Dec;94(6):495-501. doi: 10.1111/cge.13438. Epub 2018 Sep 12. Clin Genet. 2018. PMID: 30125339
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. Almannai M, et al. Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18. Pediatr Neurol. 2019. PMID: 30926181 Free article. Review.
66 results