Wakil SM - Search Results

1

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, Al-Dhekri H, Arnaout R, Al-Muhsen S, Ades N, Elshorbagi S, Al Gazlan S, Sheikh F, Dasouki M, El-Baik L, Elamin T, Jaber A, Kheir O, El-Kalioby M, Subhani S, Al Idrissi E, Al-Zahrani M, Alhelale M, Alnader N, Al-Otaibi A, Kattan R, Al Abdelrahman K, Al Breacan MM, Bin Humaid FS, Wakil SM, Alzayer F, Al-Dusery H, Faquih T, Al-Hissi S, Meyer BF, Hawwari A. Al-Mousa H, et al. Among authors: wakil sm. J Allergy Clin Immunol. 2016 Jun;137(6):1780-1787. doi: 10.1016/j.jaci.2015.12.1310. Epub 2016 Feb 23. J Allergy Clin Immunol. 2016. PMID: 26915675

2

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF. Bohlega S, et al. Among authors: wakil sm. Neurology. 2004 May 11;62(9):1518-21. doi: 10.1212/01.wnl.0000123255.92062.37. Neurology. 2004. PMID: 15136674

3

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.

Ullbro C, El-Samadi S, Boumah C, Al-Yousef N, Wakil S, Twetman S, Alfadley A, Thestrup-Pedersen K, Meyer B. Ullbro C, et al. Acta Derm Venereol. 2006;86(1):3-7. doi: 10.1080/00015550510011619. Acta Derm Venereol. 2006. PMID: 16585980 Free article.

4

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.

Alsmadi O, Al-Rubeaan K, Wakil SM, Imtiaz F, Mohamed G, Al-Saud H, Al-Saud NA, Aldaghri N, Mohammad S, Meyer BF. Alsmadi O, et al. Among authors: wakil sm. Diabetes Metab Res Rev. 2008 Feb;24(2):137-40. doi: 10.1002/dmrr.777. Diabetes Metab Res Rev. 2008. PMID: 17922473

5

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Alsmadi O, et al. Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13. Eur J Hum Genet. 2009. PMID: 18701883 Free PMC article.

6

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B. Al-Owain M, et al. Clin Genet. 2011 Jul;80(1):50-8. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22. Clin Genet. 2011. PMID: 20738328

7

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Among authors: wakil sm. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.

8

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.

Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA. Wakil SM, et al. Neurosciences (Riyadh). 2012 Jan;17(1):48-52. Neurosciences (Riyadh). 2012. PMID: 22246010

9

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.

Alsum Z, Hawwari A, Alsmadi O, Al-Hissi S, Borrero E, Abu-Staiteh A, Khalak HG, Wakil S, Eldali AM, Arnaout R, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Al-Saud B, Al-Mousa H. Alsum Z, et al. J Clin Immunol. 2013 Jan;33(1):55-67. doi: 10.1007/s10875-012-9769-x. Epub 2012 Sep 12. J Clin Immunol. 2013. PMID: 22968740

10

Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.

Al-Semari A, Wakil SM, Al-Muhaizea MA, Dababo M, Al-Amr R, Alkuraya F, Meyer BF. Al-Semari A, et al. Among authors: wakil sm. Clin Dysmorphol. 2013 Jan;22(1):13-7. doi: 10.1097/MCD.0b013e32835b6dc4. Clin Dysmorphol. 2013. PMID: 23211637

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