Alkuraya FS - Search Results

1

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Al-Dewik N, et al. Among authors: alkuraya fs. Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27. Am J Med Genet A. 2019. PMID: 30919572 Free PMC article.

2

Expanding the "E" in CHARGE.

Alazami AM, Alzahrani F, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376. Am J Med Genet A. 2008. PMID: 18553515 No abstract available.

3

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Al-Dosari MS, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401. Am J Med Genet A. 2008. PMID: 18553553

4

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Feb 15;149A(4):662-5. doi: 10.1002/ajmg.a.32753. Am J Med Genet A. 2009. PMID: 19283855

5

Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Al-Dirbashi OY, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874. Am J Med Genet A. 2009. PMID: 19449432

6

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

Al-Dosari M, Alkuraya FS. Al-Dosari M, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Oct;149A(10):2093-8. doi: 10.1002/ajmg.a.32996. Am J Med Genet A. 2009. PMID: 19681135

7

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. Among authors: alkuraya h, alkuraya fs. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

8

Homozygosity mapping: one more tool in the clinical geneticist's toolbox.

Alkuraya FS. Alkuraya FS. Genet Med. 2010 Apr;12(4):236-9. doi: 10.1097/GIM.0b013e3181ceb95d. Genet Med. 2010. PMID: 20134328 Free article. Review.

9

Mutation of CANT1 causes Desbuquois dysplasia.

Faden M, Al-Zahrani F, Arafah D, Alkuraya FS. Faden M, et al. Among authors: alkuraya fs. Am J Med Genet A. 2010 May;152A(5):1157-60. doi: 10.1002/ajmg.a.33404. Am J Med Genet A. 2010. PMID: 20425819

10

Novel CENPJ mutation causes Seckel syndrome.

Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Al-Dosari MS, et al. Among authors: alkuraya fs. J Med Genet. 2010 Jun;47(6):411-4. doi: 10.1136/jmg.2009.076646. J Med Genet. 2010. PMID: 20522431

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