Sharkia R - Search Results

1

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B. Mayer AK, et al. Among authors: sharkia r. Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098. Brain. 2019. PMID: 31009037 Free PMC article.

2

Comparative screening of FMF mutations in various communities of the Israeli society.

Sharkia R, Mahajnah M, Zalan A, Athamna M, Azem A, Badarneh K, Faris F. Sharkia R, et al. Eur J Med Genet. 2013 Jul;56(7):351-5. doi: 10.1016/j.ejmg.2013.04.002. Epub 2013 Apr 18. Eur J Med Genet. 2013. PMID: 23602951

3

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.

Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M. Mallaret M, et al. Among authors: sharkia r. Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24. Brain. 2014. PMID: 24369382 Free PMC article.

4

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.

Sharkia R, Mahajnah M, Zalan A, Sourlis C, Bauer P, Schöls L. Sharkia R, et al. J Med Case Rep. 2014 Feb 28;8:78. doi: 10.1186/1752-1947-8-78. J Med Case Rep. 2014. PMID: 24576347 Free PMC article.

5

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B. Mayer AK, et al. Among authors: sharkia r. Mol Vis. 2015 Mar 15;21:306-15. eCollection 2015. Mol Vis. 2015. PMID: 25814828 Free PMC article.

6

Clinical characteristics of autism spectrum disorder in Israel: impact of ethnic and social diversities.

Mahajnah M, Sharkia R, Shalabe H, Terkel-Dawer R, Akawi A, Zelnik N. Mahajnah M, et al. Among authors: sharkia r. Biomed Res Int. 2015;2015:962093. doi: 10.1155/2015/962093. Epub 2015 Apr 23. Biomed Res Int. 2015. PMID: 25984535 Free PMC article.

7

CHANGES IN MARRIAGE PATTERNS AMONG THE ARAB COMMUNITY IN ISRAEL OVER A 60-YEAR PERIOD.

Sharkia R, Mahajnah M, Athamny E, Khatib M, Sheikh-Muhammad A, Zalan A. Sharkia R, et al. J Biosoc Sci. 2016 Mar;48(2):283-7. doi: 10.1017/S0021932015000103. Epub 2015 May 22. J Biosoc Sci. 2016. PMID: 25997496

8

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.

Sharkia R, Hengel H, Schöls L, Athamna M, Bauer P, Mahajnah M. Sharkia R, et al. J Med Case Rep. 2016 Mar 29;10:67. doi: 10.1186/s13256-016-0854-2. J Med Case Rep. 2016. PMID: 27021235 Free PMC article. Review.

9

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

Sharkia R, Shalev SA, Zalan A, Marom-David M, Watemberg N, Urquhart JE, Daly SB, Bhaskar SS, Williams SG, Newman WG, Spiegel R, Azem A, Elpeleg O, Mahajnah M. Sharkia R, et al. Am J Med Genet A. 2017 Apr;173(4):1051-1055. doi: 10.1002/ajmg.a.38140. Am J Med Genet A. 2017. PMID: 28328138

10

The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children.

Mahajnah M, Sharkia R, Shorbaji N, Zelnik N. Mahajnah M, et al. Among authors: sharkia r. J Atten Disord. 2020 Jun;24(8):1125-1131. doi: 10.1177/1087054717696768. Epub 2017 Apr 2. J Atten Disord. 2020. PMID: 28367712

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