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Year Number of Results
1985 1
2003 1
2005 1
2006 1
2009 1
2010 1
2011 1
2013 2
2014 2
2015 4
2016 5
2017 2
2018 3
2019 6
2020 2
2021 4
2022 2
2023 3
2024 1

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Page 1
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary M, Alsagob M, AlQudairy H, González-Álvarez AC, Arold ST, Dababo MA, Alharbi OA, Almass R, AlBakheet A, AlSarar D, Qari A, Al-Ansari MM, Oláhová M, Al-Shahrani SA, AlSayed M, Colak D, Taylor RW, AlOwain M, Kaya N. Aldosary M, et al. Among authors: al shahrani sa. Cells. 2022 Oct 7;11(19):3154. doi: 10.3390/cells11193154. Cells. 2022. PMID: 36231115 Free PMC article.
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Al-Bakheet A, Tohary M, Khan S, Chedrawi A, Edrees A, Tous E, Al-Mousa H, Al-Otaibi L, AlShahrani S, Alsagob M, Al-Quait L, Almass R, Al-Joudi H, Monies D, Al-Semari A, Aldosary M, Daghestani M, Colak D, Kaya N, Al-Owain M. Al-Bakheet A, et al. Clin Genet. 2021 May;99(5):724-731. doi: 10.1111/cge.13932. Epub 2021 Mar 5. Clin Genet. 2021. PMID: 33506509
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. Among authors: al shahrani sa. 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.
37 results