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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 2
2012 2
2013 3
2014 1
2015 3
2016 4
2017 4
2018 2
2019 3
2020 3
2021 2
2022 1
2023 1
2024 0

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30 results

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Page 1
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Among authors: al zaidan h. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
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
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.
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
Sepiapterin reductase deficiency: Report of 5 new cases.
AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B. AlSubhi S, et al. Eur J Paediatr Neurol. 2017 May;21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29. Eur J Paediatr Neurol. 2017. PMID: 28189489
Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.
Sulaiman RA, Shaheen MY, Al-Zaidan H, Al-Hassnan Z, Al-Sayed M, Rahbeeni Z, Bakshi NA, Kaya N, Aldosary M, Al-Owain M. Sulaiman RA, et al. Among authors: al zaidan h. Intractable Rare Dis Res. 2016 Aug;5(3):227-30. doi: 10.5582/irdr.2016.01018. Intractable Rare Dis Res. 2016. PMID: 27672548 Free PMC article.
30 results