Kaya N - Search Results

1

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: kaya n. Clin Dysmorphol. 2024 Apr 1;33(2):55-62. doi: 10.1097/MCD.0000000000000486. Epub 2024 Feb 15. Clin Dysmorphol. 2024. PMID: 38410982

2

Comparison of two dependent within subject coefficients of variation to evaluate the reproducibility of measurement devices.

Shoukri MM, Colak D, Kaya N, Donner A. Shoukri MM, et al. Among authors: kaya n. BMC Med Res Methodol. 2008 Apr 22;8:24. doi: 10.1186/1471-2288-8-24. BMC Med Res Methodol. 2008. PMID: 18430244 Free PMC article.

3

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.

Kaya N, Al-Owain M, Albakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P. Kaya N, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):558-65. doi: 10.1016/j.ejmg.2008.08.001. Epub 2008 Aug 26. Eur J Med Genet. 2008. PMID: 18790721

4

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

Kaya N, Imtiaz F, Colak D, Al-Sayed M, Al-Odaib A, Al-Zahrani F, Al-Mubarak BR, Al-Owain M, Al-Dhalaan H, Chedrawi A, Al-Hassnan Z, Coskun S, Sakati N, Ozand P, Meyer BF. Kaya N, et al. Genet Med. 2008 Sep;10(9):675-84. doi: 10.1097/gim.0b013e31818337a8. Genet Med. 2008. PMID: 18978679 Free article.

5

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. Among authors: kaya n. 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.

6

Left ventricular global transcriptional profiling in human end-stage dilated cardiomyopathy.

Colak D, Kaya N, Al-Zahrani J, Al Bakheet A, Muiya P, Andres E, Quackenbush J, Dzimiri N. Colak D, et al. Among authors: kaya n. Genomics. 2009 Jul;94(1):20-31. doi: 10.1016/j.ygeno.2009.03.003. Epub 2009 Mar 28. Genomics. 2009. PMID: 19332114 Free PMC article.

7

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. Al-Owain M, et al. Among authors: kaya n. Clin Genet. 2011 Apr;79(4):363-70. doi: 10.1111/j.1399-0004.2010.01462.x. Clin Genet. 2011. PMID: 20528889

8

Integrative and comparative genomics analysis of early hepatocellular carcinoma differentiated from liver regeneration in young and old.

Colak D, Chishti MA, Al-Bakheet AB, Al-Qahtani A, Shoukri MM, Goyns MH, Ozand PT, Quackenbush J, Park BH, Kaya N. Colak D, et al. Among authors: kaya n. Mol Cancer. 2010 Jun 12;9:146. doi: 10.1186/1476-4598-9-146. Mol Cancer. 2010. PMID: 20540791 Free PMC article.

9

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. Among authors: kaya n. 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.

10

ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

Kaya N, Al-Muhsen S, Al-Saud B, Al-Bakheet A, Colak D, Al-Ghonaium A, Al-Dhekri H, Al-Mousa H, Arnaout R, Al-Owain M, Iqbal M. Kaya N, et al. J Clin Immunol. 2011 Apr;31(2):245-52. doi: 10.1007/s10875-010-9488-0. Epub 2010 Dec 1. J Clin Immunol. 2011. PMID: 21120685

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