Alkuraya FS - Search Results

1

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Barsottini OGP, Taylor RW, Østergaard E, Tamim A, Schäferhoff K, Sallum JMF, Zaki MS, Kok F, Bhatia KP, Wissinger B, Sergeant K, Haack TB, Horvath R, Hiz S, Alkuraya FS, Houlden H, Pedroso JL, Maroofian R. Magrinelli F, et al. Among authors: alkuraya fs. Mov Disord Clin Pract. 2022 Jan 3;9(2):218-228. doi: 10.1002/mdc3.13398. eCollection 2022 Feb. Mov Disord Clin Pract. 2022. PMID: 35141356 Free PMC article.

2

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

3

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x. Clin Genet. 2010. PMID: 20507343

4

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.

Shamseldin HE, Rahbeeni Z, Alkuraya FS. Shamseldin HE, et al. Among authors: alkuraya fs. Am J Med Genet A. 2010 Jul;152A(7):1841-3. doi: 10.1002/ajmg.a.33123. Am J Med Genet A. 2010. PMID: 20583152 No abstract available.

5

Dorsal dimelia: report of two cases with an emphasis on the variation of phenotypic expression and a search for candidate causative genes.

Al-Qattan MM, Almazyad M, Shamseldin H, Alkuraya FS. Al-Qattan MM, et al. Among authors: alkuraya fs. J Hand Surg Eur Vol. 2010 Nov;35(9):715-20. doi: 10.1177/1753193410378954. Epub 2010 Jul 21. J Hand Surg Eur Vol. 2010. PMID: 20659967

6

Study of consanguineous populations can improve the annotation of SNP databases.

Shamseldin HE, Al-Dosari M, Al-Jbali L, Rahbeeni Z, Qari A, Hashem M, Alkuraya FS. Shamseldin HE, et al. Among authors: alkuraya fs. Eur J Med Genet. 2011 Mar-Apr;54(2):118-20. doi: 10.1016/j.ejmg.2010.10.009. Epub 2010 Oct 28. Eur J Med Genet. 2011. PMID: 21035572

7

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Among authors: alkuraya fs. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

8

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.

Shamseldin HE, Faden MA, Alashram W, Alkuraya FS. Shamseldin HE, et al. Among authors: alkuraya fs. J Med Genet. 2012 Jan;49(1):16-20. doi: 10.1136/jmedgenet-2011-100556. Epub 2011 Nov 25. J Med Genet. 2012. PMID: 22121204

9

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.

Shamseldin HE, Elfaki M, Alkuraya FS. Shamseldin HE, et al. Among authors: alkuraya fs. J Med Genet. 2012 Mar;49(3):184-6. doi: 10.1136/jmedgenet-2011-100585. Epub 2012 Jan 9. J Med Genet. 2012. PMID: 22232082

10

Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot.

Al-Qattan MM, Shamseldin HE, Alkuraya FS. Al-Qattan MM, et al. Among authors: alkuraya fs. Gene. 2012 Jun 1;500(2):216-9. doi: 10.1016/j.gene.2012.03.009. Epub 2012 Mar 28. Gene. 2012. PMID: 22484600 No abstract available.

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