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161 results

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Page 1
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. Among authors: alowain m. 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
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
D'Onofrio G, Cuccurullo C, Larsen SK, Severino M, D'Amico A, Brønstad K, AlOwain M, Morrison JL, Wheeler PG, Webb BD, Alfalah A, Iacomino M, Uva P, Coppola A, Merla G, Salpietro VD, Zara F, Striano P, Accogli A, Arnesen T, Bilo L. D'Onofrio G, et al. Among authors: alowain m. Clin Genet. 2023 Sep;104(3):371-376. doi: 10.1111/cge.14359. Epub 2023 May 16. Clin Genet. 2023. PMID: 37191084
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4. Eur J Pediatr. 2009. PMID: 19259699
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alowain m. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.
Munchausen syndrome by proxy mimicking as Gaucher disease.
Al-Owain M, Al-Zaidan H, Al-Hashem A, Kattan H, Al-Dowaish A. Al-Owain M, et al. Eur J Pediatr. 2010 Aug;169(8):1029-32. doi: 10.1007/s00431-009-1127-5. Epub 2009 Dec 29. Eur J Pediatr. 2010. PMID: 20039062
161 results