Alkuraya FS - Search Results

1

Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.

Al-Dosari MS, Almazyad M, Al-Ebdi L, Mohamed JY, Al-Dahmash S, Al-Dhibi H, Al-Kahtani E, Al-Turkmani S, Alkuraya H, Hall BD, Alkuraya FS. Al-Dosari MS, et al. Among authors: alkuraya h, alkuraya fs. Mol Vis. 2010 May 8;16:813-8. Mol Vis. 2010. PMID: 20461149 Free PMC article. Review.

2

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

3

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Neurogenetics. 2009 Oct;10(4):307-11. doi: 10.1007/s10048-009-0185-1. Epub 2009 Mar 10. Neurogenetics. 2009. PMID: 19277732

4

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

5

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.

Safieh LA, Khan AO, Alkuraya FS. Safieh LA, et al. Among authors: alkuraya fs. Mol Vis. 2009 May 15;15:980-4. Mol Vis. 2009. PMID: 19461931 Free PMC article.

6

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

Khan AO, Aldahmesh MA, Ghadhfan FE, Al-Mesfer S, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Mol Vis. 2009 Jul 24;15:1407-11. Mol Vis. 2009. PMID: 19633732 Free PMC article.

7

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

8

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

9

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya h, alkuraya fs. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.

10

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.

Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Mol Vis. 2010 Feb 10;16:207-12. Mol Vis. 2010. PMID: 20157620 Free PMC article.

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