Shalev S - Search Results

1

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.

Banka S, Shalev S, Park SM, Wood KA, Thomas HB, Wright HL, Alyahya M, Bankier S, Alimi O, Chervinsky E, Zeef LAH, O'Keefe RT. Banka S, et al. Among authors: shalev s. Brain. 2022 Oct 21;145(10):e86-e89. doi: 10.1093/brain/awac262. Brain. 2022. PMID: 35871492 No abstract available.

2

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.

Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA. Danial-Farran N, et al. Among authors: shalev sa. Eur J Hum Genet. 2021 Feb;29(2):338-342. doi: 10.1038/s41431-020-00724-6. Epub 2020 Sep 16. Eur J Hum Genet. 2021. PMID: 32939038 Free PMC article.

3

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T. Cohen B, et al. Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1. Mol Vis. 2012. PMID: 23233793 Free PMC article.

4

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S. Banka S, et al. Among authors: shalev s. Eur J Hum Genet. 2011 Jan;19(1):18-22. doi: 10.1038/ejhg.2010.136. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717171 Free PMC article.

5

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Khayat M, Danial-Farran N, Chervinsky E, Zehavi Y, Peled-Peretz L, Gafni-Amsalem C, Hakrosh S, Abu-Leil Zouabi O, Tamir L, Mamlouk E, Zlotogora J, Shalev SA. Khayat M, et al. Among authors: shalev sa. Clin Genet. 2021 Nov;100(5):522-528. doi: 10.1111/cge.14032. Epub 2021 Aug 23. Clin Genet. 2021. PMID: 34297361

6

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T. Rizel L, et al. Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219650 Free PMC article.

7

A homozygous TTN gene variant associated with lethal congenital contracture syndrome.

Chervinsky E, Khayat M, Soltsman S, Habiballa H, Elpeleg O, Shalev S. Chervinsky E, et al. Among authors: shalev s. Am J Med Genet A. 2018 Apr;176(4):1001-1005. doi: 10.1002/ajmg.a.38639. Am J Med Genet A. 2018. PMID: 29575618

8

Dysmorphology services: a snapshot of current practices and a vision for the future.

Douzgou S, Chervinsky E, Gyftodimou Y, Kitsiou-Tzeli S, Shalev S, Kanavakis E, Donnai D, Clayton-Smith J. Douzgou S, et al. Among authors: shalev s. Clin Genet. 2016 Jan;89(1):27-33. doi: 10.1111/cge.12571. Epub 2015 Mar 9. Clin Genet. 2016. PMID: 25683496

9

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J. Urquhart J, et al. Among authors: shalev s. Am J Med Genet A. 2016 May;170A(5):1216-24. doi: 10.1002/ajmg.a.37564. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789649

10

Expanding the genotypic spectrum of Perrault syndrome.

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Among authors: shalev sa. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254

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