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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2008 2
2009 4
2010 1
2011 2
2012 3
2013 5
2014 8
2015 14
2016 8
2017 10
2018 14
2019 11
2020 9
2021 13
2022 3
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92 results
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Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: ben shachar s. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
In Reply.
Sagi-Dain L, Maya I, Singer A, Ben-Shachar S. Sagi-Dain L, et al. Among authors: ben shachar s. Obstet Gynecol. 2019 Apr;133(4):828. doi: 10.1097/AOG.0000000000003208. Obstet Gynecol. 2019. PMID: 30913183 No abstract available.
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U. Durno C, et al. Among authors: ben shachar s. J Clin Oncol. 2021 Sep 1;39(25):2779-2790. doi: 10.1200/JCO.20.02636. Epub 2021 May 4. J Clin Oncol. 2021. PMID: 33945292 Free PMC article.
Ante-natal counseling in phacomatoses.
Brabbing-Goldstein D, Ben-Shachar S. Brabbing-Goldstein D, et al. Among authors: ben shachar s. Childs Nerv Syst. 2020 Oct;36(10):2269-2277. doi: 10.1007/s00381-020-04776-3. Epub 2020 Jul 5. Childs Nerv Syst. 2020. PMID: 32623496
Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals.
Kustin T, Harel N, Finkel U, Perchik S, Harari S, Tahor M, Caspi I, Levy R, Leshchinsky M, Ken Dror S, Bergerzon G, Gadban H, Gadban F, Eliassian E, Shimron O, Saleh L, Ben-Zvi H, Keren Taraday E, Amichay D, Ben-Dor A, Sagas D, Strauss M, Shemer Avni Y, Huppert A, Kepten E, Balicer RD, Netzer D, Ben-Shachar S, Stern A. Kustin T, et al. Among authors: ben shachar s. Nat Med. 2021 Aug;27(8):1379-1384. doi: 10.1038/s41591-021-01413-7. Epub 2021 Jun 14. Nat Med. 2021. PMID: 34127854 Free PMC article.
Advances in Molecular Diagnosis of Neurofibromatosis Type 1.
Shofty B, Constantini S, Ben-Shachar S. Shofty B, et al. Among authors: ben shachar s. Semin Pediatr Neurol. 2015 Dec;22(4):234-9. doi: 10.1016/j.spen.2015.10.007. Epub 2015 Oct 28. Semin Pediatr Neurol. 2015. PMID: 26706011 Review.
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.
Hausman-Kedem M, Malinger G, Modai S, Kushner SA, Shiran SI, Ben-Sira L, Roth J, Constantini S, Fattal-Valevski A, Ben-Shachar S. Hausman-Kedem M, et al. Among authors: ben shachar s. Ann Neurol. 2021 Apr;89(4):813-822. doi: 10.1002/ana.26033. Epub 2021 Feb 16. Ann Neurol. 2021. PMID: 33527515
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Sagi-Dain L, Goldberg Y, Peleg A, Sukenik-Halevy R, Sofrin-Drucker E, Appelman Z, Josefsberg BYS, Ben-Shachar S, Vinkler C, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Among authors: ben shachar s. Hum Genet. 2019 Oct;138(10):1145-1153. doi: 10.1007/s00439-019-02048-y. Epub 2019 Jul 18. Hum Genet. 2019. PMID: 31321490 Review.
92 results