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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 2
2009 2
2010 3
2011 1
2012 1
2013 2
2014 1
2015 3
2016 4
2017 3
2018 2
2019 2
2020 2
2021 2
2022 1
2023 1
2024 0

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26 results

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Page 1
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
AlQudairy H, AlDhalaan H, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, AlBakheet A, Alomrani A, Alharbi OA, Tous E, AlSayed M, AlZaidan H, AlRasheed MM, AlOdaib A, Kaya N. AlQudairy H, et al. Front Pediatr. 2023 Feb 27;10:1051534. doi: 10.3389/fped.2022.1051534. eCollection 2022. Front Pediatr. 2023. PMID: 36923948 Free PMC article.
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Hildebrandt CC, Patel N, Graham JM Jr, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE; University of Washington Center for Mendelian Genomics; Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE. Hildebrandt CC, et al. Among authors: al zaidan hi. Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783941
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 zaidan h. OMICS. 2020 Mar;24(3):160-171. doi: 10.1089/omi.2019.0192. Epub 2020 Feb 27. OMICS. 2020. PMID: 32105570
Optic neuropathy in classical methylmalonic acidemia.
AlOwain M, Khalifa OA, Al Sahlawi Z, Hussein MH, Sulaiman RA, Al-Sayed M, Rahbeeni Z, Al-Hassnan Z, Al-Zaidan H, Nezzar H, Al Homoud I, Eldali A, Altonen B, Handoom BS, Mbekeani JN. AlOwain M, et al. Among authors: al zaidan h. Ophthalmic Genet. 2019 Aug;40(4):313-322. doi: 10.1080/13816810.2019.1634740. Epub 2019 Jul 4. Ophthalmic Genet. 2019. PMID: 31269850
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M. Al-Hamed MH, et al. Among authors: al zaidan h. Mol Genet Metab Rep. 2019 Jan 9;18:22-29. doi: 10.1016/j.ymgmr.2018.12.004. eCollection 2019 Mar. Mol Genet Metab Rep. 2019. PMID: 30705822 Free PMC article.
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE, Faquih T, Baz B, Kattan R, Al-Issa A, Tahir AI, Imtiaz F, Ramzan K, Al-Sayed M, Alowain M, Al-Hassnan Z, Al-Zaidan H, Abouelhoda M, Al-Mubarak BR, Al Tassan NA. Mustafa AE, et al. Among authors: al zaidan h. Genes (Basel). 2018 May 22;9(5):267. doi: 10.3390/genes9050267. Genes (Basel). 2018. PMID: 29789446 Free PMC article.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: al zaidan hi. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Imtiaz F, Al-Mostafa A, Allam R, Ramzan K, Al-Tassan N, Tahir AI, Al-Numair NS, Al-Hamed MH, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Al-Amoudi M, Qari A, Balobaid A, Al-Sayed M. Imtiaz F, et al. Among authors: al zaidan h. Mol Genet Metab Rep. 2017 Apr 7;11:17-23. doi: 10.1016/j.ymgmr.2017.03.006. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28417071 Free PMC article.
26 results