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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
Albakheet A, Almuallami D, Almass R, Qari A, Kenana R, AlQudairy H, Huma R, Binomar H, Wakil SM, Alowain M, Colak D, Kaya N, AlSayed MD. Albakheet A, et al. Among authors: wakil sm. Clin Dysmorphol. 2024 Apr 1;33(2):55-62. doi: 10.1097/MCD.0000000000000486. Epub 2024 Feb 15. Clin Dysmorphol. 2024. PMID: 38410982
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
Alsagob M, Salih MA, Hamad MHA, Al-Yafee Y, Al-Zahrani J, Al-Bakheet A, Nester M, Sakati N, Wakil SM, AlOdaib A, Colak D, Kaya N. Alsagob M, et al. Among authors: wakil sm. Mol Cytogenet. 2019 May 18;12:21. doi: 10.1186/s13039-019-0432-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31131027 Free PMC article.
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Al-Hassnan ZN, Albawardi W, Almutairi F, AlMass R, AlBakheet A, Mustafa OM, AlQuait L, Shinwari ZMA, Wakil S, Salih MA, Al-Fayyadh M, Hassan SM, Aljoufan M, Al-Nakhli O, Levy B, AlMaarik B, Al-Hakami HA, Alsagob M, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: wakil s. Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29416564 Free PMC article.
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
Patel N, Shamseldin HE, Sakati N, Khan AO, Softa A, Al-Fadhli FM, Hashem M, Abdulwahab FM, Alshidi T, Alomar R, Alobeid E, Wakil SM, Colak D, Alkuraya FS. Patel N, et al. Among authors: wakil sm. Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008. Am J Hum Genet. 2017. PMID: 28475863 Free PMC article.
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Al-Qattan SM, Wakil SM, Anazi S, Alazami AM, Patel N, Shaheen R, Shamseldin HE, Hagos ST, AlDossari HM, Salih MA, El Khashab HY, Kentab AY, AlNasser MN, Bashiri FA, Kaya N, Hashem MO, Alkuraya FS. Al-Qattan SM, et al. Among authors: wakil sm. Genet Med. 2015 Sep;17(9):719-25. doi: 10.1038/gim.2014.184. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503496 Free article.
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM. Altassan R, et al. Among authors: wakil sm. Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. Am J Med Genet A. 2017. PMID: 28328124
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