Ozand PT - Search Results

1

Clinical and biochemical features associated with BCS1L mutation.

Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N. Al-Owain M, et al. Among authors: ozand pt. J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19. J Inherit Metab Dis. 2013. PMID: 22991165

2

Impaired DNA synthesis in dermal fibroblasts from Zellweger syndrome patients.

Dhaunsi GS, Rahbeeni Z, al-Essa M, Ozand PT. Dhaunsi GS, et al. Among authors: ozand pt. J Inherit Metab Dis. 1998 Apr;21(2):179-80. doi: 10.1023/a:1005376600257. J Inherit Metab Dis. 1998. PMID: 9584273 No abstract available.

3

Novel mutation in GLRB in a large family with hereditary hyperekplexia.

Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. Al-Owain M, et al. Among authors: ozand pt. Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21391991

4

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

5

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.

6

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: ozand pt. Ann Neurol. 2012 Apr;71(4):498-508. doi: 10.1002/ana.22673. Epub 2011 Dec 28. Ann Neurol. 2012. PMID: 22213401

7

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.

8

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. Among authors: ozand pt. 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

9

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: ozand pt. Mol Cancer. 2010 Jun 12;9:146. doi: 10.1186/1476-4598-9-146. Mol Cancer. 2010. PMID: 20540791 Free PMC article.

10

Screening blood spots for argininosuccinase deficiency by electrospray tandem mass spectrometry.

Rashed MS, Rahbeeni Z, Ozand PT. Rashed MS, et al. Among authors: ozand pt. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:170-3. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400762

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