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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
Al-Saif A, Al-Mohanna F, Bohlega S. Al-Saif A, et al. Ann Neurol. 2011 Dec;70(6):913-9. doi: 10.1002/ana.22534. Epub 2011 Aug 12. Ann Neurol. 2011. PMID: 21842496
Ribonucleic acid interference targeting S100A4 (Mts1) suppresses tumor growth and metastasis of anaplastic thyroid carcinoma in a mouse model.
Shi Y, Zou M, Collison K, Baitei EY, Al-Makhalafi Z, Farid NR, Al-Mohanna FA. Shi Y, et al. J Clin Endocrinol Metab. 2006 Jun;91(6):2373-9. doi: 10.1210/jc.2006-0155. Epub 2006 Mar 21. J Clin Endocrinol Metab. 2006. PMID: 16551737
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.
Alsmadi O, Muiya P, Khalak H, Al-Saud H, Meyer BF, Al-Mohanna F, Alshahid M, Dzimiri N. Alsmadi O, et al. Ann Hum Genet. 2009 Sep;73(Pt 5):475-83. doi: 10.1111/j.1469-1809.2009.00534.x. Epub 2009 Jun 16. Ann Hum Genet. 2009. PMID: 19624571
A study of the role of the Myocyte-specific Enhancer Factor-2A gene in coronary artery disease.
Elhawari S, Al-Boudari O, Muiya P, Khalak H, Andres E, Al-Shahid M, Al-Dosari M, Meyer BF, Al-Mohanna F, Dzimiri N. Elhawari S, et al. Atherosclerosis. 2010 Mar;209(1):152-4. doi: 10.1016/j.atherosclerosis.2009.09.005. Epub 2009 Sep 9. Atherosclerosis. 2010. PMID: 19782985
Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.
Raef H, Al-Rijjal R, Al-Shehri S, Zou M, Al-Mana H, Baitei EY, Parhar RS, Al-Mohanna FA, Shi Y. Raef H, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1000-6. doi: 10.1210/jc.2009-1823. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089614
Estimation of modified concordance ratio in sib-pairs: effect of consanguinity on the risk of congenital heart diseases.
Shoukri MM, Donner A, Dessouky NA, Subhani S, Al-Joufan M, Al-Omrani A, Al-Mohanna F, Al Halees ZY. Shoukri MM, et al. Int J Biostat. 2010;6(1):Article 3. doi: 10.2202/1557-4679.1216. Int J Biostat. 2010. PMID: 21969967
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