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Page 1
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. El-Hattab AW, et al. Among authors: alfadhel m. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29282788 Free article.
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW. Al-Hussaini A, et al. Among authors: alfadhel m. J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8. J Pediatr. 2014. PMID: 24321534
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Al-Hassnan ZN, Al-Dosary M, Alfadhel M, Faqeih EA, Alsagob M, Kenana R, Almass R, Al-Harazi OS, Al-Hindi H, Malibari OI, Almutari FB, Tulbah S, Alhadeq F, Al-Sheddi T, Alamro R, AlAsmari A, Almuntashri M, Alshaalan H, Al-Mohanna FA, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: alfadhel m. J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24. J Med Genet. 2015. PMID: 25539947
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M. Imtiaz F, et al. Among authors: alfadhel m. JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29. JIMD Rep. 2016. PMID: 26615597 Free PMC article.
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Among authors: alfadhel m. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, Alzaidan H, Alowain M, Al-Hassnan Z, Saeedi M, Aljohery S, Alasmari A, Faqeih E, Alwakeel M, AlMashary M, Almohameed S, Alzahrani M, Migdad A, Al-Dirbashi OY, Rashed M, Alamoudi M, Jacob M, Alahaidib L, El-Badaoui F, Saadallah A, Alsulaiman A, Eyaid W, Al-Odaib A. Alfadhel M, et al. J Paediatr Child Health. 2017 Jun;53(6):585-591. doi: 10.1111/jpc.13469. Epub 2017 Mar 24. J Paediatr Child Health. 2017. PMID: 28337809
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, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S… See abstract for full author list ➔ Monies D, et al. Among authors: alfadhel m. 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.
Congenital disorders of glycosylation: The Saudi experience.
Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B. Alsubhi S, et al. Among authors: alfadhel m. Am J Med Genet A. 2017 Oct;173(10):2614-2621. doi: 10.1002/ajmg.a.38358. Epub 2017 Jul 25. Am J Med Genet A. 2017. PMID: 28742265
260 results