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Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Aldosary M, Al-Bakheet A, Al-Dhalaan H, Almass R, Alsagob M, Al-Younes B, AlQuait L, Mustafa OM, Bulbul M, Rahbeeni Z, Alfadhel M, Chedrawi A, Al-Hassnan Z, AlDosari M, Al-Zaidan H, Al-Muhaizea MA, AlSayed MD, Salih MA, AlShammari M, Faiyaz-Ul-Haque M, Chishti MA, Al-Harazi O, Al-Odaib A, Kaya N, Colak D. Aldosary M, et al. Among authors: al dhalaan h. OMICS. 2020 Mar;24(3):160-171. doi: 10.1089/omi.2019.0192. Epub 2020 Feb 27. OMICS. 2020. PMID: 32105570
The clinical spectrum of homozygous HOXA1 mutations.
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. Bosley TM, et al. Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262. Am J Med Genet A. 2008. PMID: 18412118 Free PMC article.
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.
Colak D, Al-Dhalaan H, Nester M, Albakheet A, Al-Younes B, Al-Hassnan Z, Al-Dosari M, Chedrawi A, Al-Owain M, Abudheim N, Al-Alwan L, Al-Odaib A, Ozand P, Inan MS, Kaya N. Colak D, et al. Among authors: al dhalaan h. Genomics. 2011 Jan;97(1):19-28. doi: 10.1016/j.ygeno.2010.09.004. Epub 2010 Oct 8. Genomics. 2011. PMID: 20934504 Free article.
Vanishing white matter in Saudi Arabia.
Otaif MY, Al-Muhaizea MA, Al-Jofan F, Al-Dhalaan H. Otaif MY, et al. Neurosciences (Riyadh). 2008 Oct;13(4):433-6. Neurosciences (Riyadh). 2008. PMID: 21063376
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. Al-Owain M, et al. Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21391991
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M. Kaya N, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812104
A novel X-linked disorder with developmental delay and autistic features.
Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT. Kaya N, et al. Among authors: al dhalaan h. Ann Neurol. 2012 Apr;71(4):498-508. doi: 10.1002/ana.22673. Epub 2011 Dec 28. Ann Neurol. 2012. PMID: 22213401
67 results