Rahbeeni ZA - Search Results

1

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Alrakaf L, Al-Owain MA, Busehail M, Alotaibi MA, Monies D, Aldhalaan HM, Alhashem A, Al-Hassnan ZN, Rahbeeni ZA, Murshedi FA, Ani NA, Al-Maawali A, Ibrahim NA, Abdulwahab FM, Alsagob M, Hashem MO, Ramadan W, Abouelhoda M, Meyer BF, Kaya N, Maddirevula S, Alkuraya FS. Alrakaf L, et al. Among authors: rahbeeni za. Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383837

2

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia.

Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY, Al Amoudi M, Al-Sayed MM, Rahbeeni Z, Al-Hassnan Z, Al-Dbaas A, Al-Owain M, Ni Luanaigh M. Rashed MS, et al. Anal Biochem. 2005 Apr 15;339(2):310-7. doi: 10.1016/j.ab.2005.01.014. Anal Biochem. 2005. PMID: 15797572

3

Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.

Al-Dirbashi OY, Jacob M, Al-Ahaidib LY, Al-Qahtani K, Rahbeeni Z, Al-Owain M, Rashed MS. Al-Dirbashi OY, et al. Clin Chim Acta. 2006 Mar;365(1-2):243-8. doi: 10.1016/j.cca.2005.09.001. Epub 2005 Oct 21. Clin Chim Acta. 2006. PMID: 16243307

4

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK. Al-Hassnan ZN, et al. J Neurol Sci. 2008 Jan 15;264(1-2):187-94. doi: 10.1016/j.jns.2007.08.003. Epub 2007 Sep 7. J Neurol Sci. 2008. PMID: 17825324

5

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

6

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. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.

7

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS. Al-Hassnan ZN, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22. J Inherit Metab Dis. 2010. PMID: 20567907

8

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.

Shamseldin HE, Rahbeeni Z, Alkuraya FS. Shamseldin HE, et al. Am J Med Genet A. 2010 Jul;152A(7):1841-3. doi: 10.1002/ajmg.a.33123. Am J Med Genet A. 2010. PMID: 20583152 No abstract available.

9

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Shaheen R, et al. Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x. Clin Genet. 2011. PMID: 20681997

10

Study of consanguineous populations can improve the annotation of SNP databases.

Shamseldin HE, Al-Dosari M, Al-Jbali L, Rahbeeni Z, Qari A, Hashem M, Alkuraya FS. Shamseldin HE, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):118-20. doi: 10.1016/j.ejmg.2010.10.009. Epub 2010 Oct 28. Eur J Med Genet. 2011. PMID: 21035572

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