Alkuraya FS - Search Results

1

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.

Al-Yacoub N, Shaheen R, Awad SM, Kunhi M, Dzimiri N, Nguyen HC, Xiong Y, Al-Buraiki J, Al-Habeeb W, Alkuraya FS, Poizat C. Al-Yacoub N, et al. Among authors: alkuraya fs. Genome Biol. 2016 Jan 11;17:2. doi: 10.1186/s13059-015-0861-4. Genome Biol. 2016. PMID: 26753747 Free PMC article.

2

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

3

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

4

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Am J Hum Genet. 2009. PMID: 19732862 Free PMC article.

5

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

6

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

7

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x. Clin Genet. 2011. PMID: 20681997

8

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Hum Mutat. 2011 Jun;32(6):573-8. doi: 10.1002/humu.21507. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21462283

9

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA. Alkuraya FS, et al. Am J Hum Genet. 2011 May 13;88(5):536-47. doi: 10.1016/j.ajhg.2011.04.003. Epub 2011 Apr 28. Am J Hum Genet. 2011. PMID: 21529751 Free PMC article.

10

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Am J Med Genet A. 2011 Jun;155A(6):1448-52. doi: 10.1002/ajmg.a.34025. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567934

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