Allam R - Search Results

1

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

Imtiaz F, Allam R, Ramzan K, Al-Sayed M. Imtiaz F, et al. Among authors: allam r. BMC Med Genet. 2015 Mar 17;16:14. doi: 10.1186/s12881-015-0162-5. BMC Med Genet. 2015. PMID: 25927852 Free PMC article.

2

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.

Imtiaz F, Taibah K, Ramzan K, Bin-Khamis G, Kennedy S, Al-Mubarak B, Trabzuni D, Allam R, Al-Mostafa A, Sogaty S, Al-Shaikh AH, Bamukhayyar SS, Meyer BF, Al-Owain M. Imtiaz F, et al. Among authors: allam r. BMC Med Genet. 2011 Jul 4;12:91. doi: 10.1186/1471-2350-12-91. BMC Med Genet. 2011. PMID: 21726435 Free PMC article.

3

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M. Imtiaz F, et al. Among authors: allam r. Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30. Mol Genet Metab. 2011. PMID: 21764616

4

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.

Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. Among authors: allam r. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.

5

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.

Ramzan K, Al-Owain M, Allam R, Berhan A, Abuharb G, Taibah K, Imtiaz F. Ramzan K, et al. Among authors: allam r. Gene. 2013 May 25;521(1):195-9. doi: 10.1016/j.gene.2013.03.042. Epub 2013 Mar 16. Gene. 2013. PMID: 23510777

6

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M. Albash B, et al. Among authors: allam r. Eur J Pediatr. 2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11. Eur J Pediatr. 2014. PMID: 24326380 Review.

7

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA. Khalifa O, et al. Among authors: allam r. Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681. Epub 2014 Jul 29. Am J Med Genet A. 2014. PMID: 25073711

8

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, Abdel-Fattah M, Abuharb G, Nester M, Verloes A, Al-Zaidan H. Khalifa O, et al. Among authors: allam r. Eur J Med Genet. 2015 May;58(5):293-9. doi: 10.1016/j.ejmg.2014.12.008. Epub 2015 Feb 13. Eur J Med Genet. 2015. PMID: 25682901 Review.

9

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M. Imtiaz F, et al. Among authors: allam r. JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29. JIMD Rep. 2016. PMID: 26615597 Free PMC article.

10

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

Ramzan K, Bin-Abbas B, Al-Jomaa L, Allam R, Al-Owain M, Imtiaz F. Ramzan K, et al. Among authors: allam r. BMC Endocr Disord. 2017 Mar 16;17(1):17. doi: 10.1186/s12902-017-0164-8. BMC Endocr Disord. 2017. PMID: 28302169 Free PMC article.

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