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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
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.
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS.
Shaheen R, et al. Among authors: sunker a.
Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5.
Hum Mutat. 2011.
PMID: 21462283
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Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS.
Shaheen R, et al. Among authors: sunker a.
Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4.
Am J Hum Genet. 2011.
PMID: 21820096
Free PMC article.
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Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.
Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS.
Al-Owain M, et al. Among authors: sunker a.
Gene. 2012 Dec 15;511(2):447-50. doi: 10.1016/j.gene.2012.09.022. Epub 2012 Sep 23.
Gene. 2012.
PMID: 23010198
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Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain.
Sunker A, Alkuraya FS.
Sunker A, et al.
Gene. 2013 Jan 10;512(2):450-2. doi: 10.1016/j.gene.2012.10.063. Epub 2012 Nov 2.
Gene. 2013.
PMID: 23124037
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POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, Al-Sheddi T, Adly N, Al-Dosari MS, Megason SG, Al-Husain M, Al-Mohanna F, Alkuraya FS.
Shaheen R, et al. Among authors: sunker a.
Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26.
Am J Hum Genet. 2012.
PMID: 22840364
Free PMC article.
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Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F, Alhashmi N, Al Sonbul A, Sewairi W, Qari A, Abdallah E, Al-Owain M, Al Motywee S, Al-Rayes H, Hashem M, Khalak H, Al-Jebali L, Alkuraya FS.
Al-Mayouf SM, et al. Among authors: sunker a.
Nat Genet. 2011 Oct 23;43(12):1186-8. doi: 10.1038/ng.975.
Nat Genet. 2011.
PMID: 22019780
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