Khalifa OA - Search Results

1

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.

Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Khalifa OA, et al. Am J Med Genet A. 2020 Nov;182(11):2486-2500. doi: 10.1002/ajmg.a.61806. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812330

2

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M. Khalifa O, et al. Eur J Pediatr. 2011 Jan;170(1):121-6. doi: 10.1007/s00431-010-1298-0. Epub 2010 Sep 24. Eur J Pediatr. 2011. PMID: 20865280

3

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. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.

4

A case of de Barsy syndrome with a severe eye phenotype.

Al-Owain M, Alanazi S, Khalifa O, Al-Hemidan A, Al-Ebdi L, Al-Saud B, Alkuraya FS. Al-Owain M, et al. Am J Med Genet A. 2012 Sep;158A(9):2364-6. doi: 10.1002/ajmg.a.35507. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887749 No abstract available.

5

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. 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

6

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. 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.

7

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM. Altassan R, et al. Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. Am J Med Genet A. 2017. PMID: 28328124

8

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

Zaki OK, Priya Doss C G, Ali SA, Murad GG, Elashi SA, Ebnou MSA, Kumar D T, Khalifa O, Gamal R, El Abd HSA, Nasr BN, Zayed H. Zaki OK, et al. Hum Mol Genet. 2017 Aug 15;26(16):3105-3115. doi: 10.1093/hmg/ddx195. Hum Mol Genet. 2017. PMID: 28535199

9

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.

Zayed H, El Khayat H, Tomoum H, Khalifa O, Siddiq E, Mohammad SA, Gamal R, Shi Z, Mosailhy A, Zaki OK. Zayed H, et al. Metab Brain Dis. 2019 Aug;34(4):1231-1241. doi: 10.1007/s11011-019-00422-3. Epub 2019 May 6. Metab Brain Dis. 2019. PMID: 31062211 Free PMC article.

10

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

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