Khalifa OA - Search Results

1

Optic neuropathy in classical methylmalonic acidemia.

AlOwain M, Khalifa OA, Al Sahlawi Z, Hussein MH, Sulaiman RA, Al-Sayed M, Rahbeeni Z, Al-Hassnan Z, Al-Zaidan H, Nezzar H, Al Homoud I, Eldali A, Altonen B, Handoom BS, Mbekeani JN. AlOwain M, et al. Among authors: khalifa oa. Ophthalmic Genet. 2019 Aug;40(4):313-322. doi: 10.1080/13816810.2019.1634740. Epub 2019 Jul 4. Ophthalmic Genet. 2019. PMID: 31269850

2

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

3

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

4

Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features.

Khalifa OA, Walter CU, Rahbeeni ZA, Verloes A. Khalifa OA, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):173-6. doi: 10.1016/j.ejmg.2010.11.007. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094707

5

Oral-facial-digital syndrome type 1: unique radiological findings.

Khalifa O, Rahbeeni Z, Alhashmi N, Almane K. Khalifa O, et al. Clin Dysmorphol. 2012 Apr;21(2):77-79. doi: 10.1097/MCD.0b013e32834e9261. Clin Dysmorphol. 2012. PMID: 22123492 No abstract available.

6

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.

7

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.

8

Combined TSC1 and LMX1B mutations in a single patient.

Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN. Khalifa O, et al. Clin Dysmorphol. 2014 Apr;23(2):47-51. doi: 10.1097/MCD.0000000000000025. Clin Dysmorphol. 2014. PMID: 24477276

9

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.

10

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906

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