Abu-Dheim N - Search Results

1

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.

Al-Hassnan ZN, Al-Bakheet A, Abu-Dheim N, Al-Younes B, Colak D, Kaya N. Al-Hassnan ZN, et al. Among authors: abu dheim n. Am J Med Genet A. 2011 Dec;155A(12):3128-31. doi: 10.1002/ajmg.a.34298. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002944 No abstract available.

2

A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

Al-Owain M, Al-Zahrani J, Al-Bakheet A, Abudheim N, Al-Younes B, Aldhalaan H, Al-Zaidan H, Colak D, Almohaileb F, Abouzied ME, Al-Fadhli F, Meyer B, Kaya N. Al-Owain M, et al. Clin Genet. 2013 Sep;84(3):258-64. doi: 10.1111/cge.12066. Epub 2012 Dec 21. Clin Genet. 2013. PMID: 23181898

3

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways.

Colak D, Al-Dhalaan H, Nester M, Albakheet A, Al-Younes B, Al-Hassnan Z, Al-Dosari M, Chedrawi A, Al-Owain M, Abudheim N, Al-Alwan L, Al-Odaib A, Ozand P, Inan MS, Kaya N. Colak D, et al. Genomics. 2011 Jan;97(1):19-28. doi: 10.1016/j.ygeno.2010.09.004. Epub 2010 Oct 8. Genomics. 2011. PMID: 20934504 Free article.

4

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

Kaya N, Al-Owain M, Abudheim N, Al-Zahrani J, Colak D, Al-Sayed M, Milanlioglu A, Ozand PT, Alkuraya FS. Kaya N, et al. Am J Med Genet A. 2011 Jun;155A(6):1281-4. doi: 10.1002/ajmg.a.33932. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567908

5

A novel X-linked disorder with developmental delay and autistic features.

Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT. Kaya N, et al. Among authors: abu dheim n. Ann Neurol. 2012 Apr;71(4):498-508. doi: 10.1002/ana.22673. Epub 2011 Dec 28. Ann Neurol. 2012. PMID: 22213401

6

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects.

Al-Zahrani J, Al-Dosari N, Abudheim N, Alshidi TA, Colak D, Al-Habit O, Al-Odaib A, Sakati N, Meyer B, Ozand PT, Kaya N. Al-Zahrani J, et al. Mol Cytogenet. 2011 Apr 2;4:9. doi: 10.1186/1755-8166-4-9. Mol Cytogenet. 2011. PMID: 21457577 Free PMC article.

7

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.

Raef H, Zou M, Baitei EY, Al-Rijjal RA, Kaya N, Al-Hamed M, Monies D, Abu-Dheim NN, Al-Hindi H, Al-Ghamdi MH, Meyer BF, Shi Y. Raef H, et al. Among authors: abu dheim nn. Clin Endocrinol (Oxf). 2011 Dec;75(6):791-800. doi: 10.1111/j.1365-2265.2011.04134.x. Clin Endocrinol (Oxf). 2011. PMID: 21627674

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