Khalifa O - Search Results

1

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.

2

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

3

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.

4

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

5

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. Among authors: khalifa o. 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.

6

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. Among authors: khalifa o. 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

7

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.

8

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, Alowain M, Rahbeeni Z, Al-Sayed M. Al-Hassnan ZN, et al. Mol Genet Metab Rep. 2018 Feb 7;15:50-54. doi: 10.1016/j.ymgmr.2018.02.001. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023291 Free PMC article.

9

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

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. Among authors: khalifa o. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

67 results

Search Page

Filters