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

Year Number of Results
2002 2
2005 1
2006 1
2007 2
2008 1
2009 1
2010 2
2011 1
2012 4
2013 1
2014 1
2016 1
2017 1
2018 3
2019 7
2020 6
2021 5
2022 1
2023 4
2024 3

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40 results

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Page 1
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: paperna t. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Shlomovitz O, Atias-Varon D, Yagel D, Barel O, Shasha-Lavsky H, Skorecki K, Eliyahu A, Bathish Y, Frajewicki V, Kushnir D, Zaid R, Paperna T, Ofir A, Tchirkov M, Hassan K, Kruzel E, Khazim K, Geron R, Weisman I, Hanut A, Nakhoul F, Kenig-Kozlovsky Y, Refael G, Antebi A, Storch S, Leiba M, Kagan M, Shukrun R, Rechavi G, Dekel B, Ben Moshe Y, Weiss K, Assady S, Vivante A. Shlomovitz O, et al. Among authors: paperna t. Am J Kidney Dis. 2024 Feb;83(2):183-195. doi: 10.1053/j.ajkd.2023.06.006. Epub 2023 Sep 15. Am J Kidney Dis. 2024. PMID: 37717846
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Samra N, Jansen NS, Morani I, Kakun RR, Zaid R, Paperna T, Garcia-Dominguez M, Viner Y, Frankenthal H, Shinwell ES, Portnov I, Bakry D, Shalata A, Shapira Rootman M, Kidron D, Claessens LA, Wevers RA, Mandel H, Vertegaal ACO, Weiss K. Samra N, et al. Among authors: paperna t. J Med Genet. 2023 Nov;60(11):1133-1141. doi: 10.1136/jmg-2023-109267. Epub 2023 Jul 17. J Med Genet. 2023. PMID: 37460201
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.
Reznick Levi G, Goldberg Y, Segev H, Maza I, Gorelik Y, Laish I, Levi Z, Kedar I, Naftali Nathan S, Sharon Swartzman N, Abu Freha N, Paritsky M, Rennert G, Baris Feldman H, Paperna T, Weiss K, Half EE. Reznick Levi G, et al. Among authors: paperna t. Dig Liver Dis. 2023 Jul;55(7):880-887. doi: 10.1016/j.dld.2023.01.151. Epub 2023 Feb 4. Dig Liver Dis. 2023. PMID: 36740502 Review.
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.
Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN. Kurolap A, et al. Among authors: paperna t. N Engl J Med. 2017 Jul 6;377(1):87-89. doi: 10.1056/NEJMc1707173. Epub 2017 Jun 28. N Engl J Med. 2017. PMID: 28657861 No abstract available.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: paperna t. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.
Weiss K, Kurolap A, Paperna T, Mory A, Steinberg M, Hershkovitz T, Ekhilevitch N, Baris HN. Weiss K, et al. Among authors: paperna t. Rambam Maimonides Med J. 2018 Jul 30;9(3):e0018. doi: 10.5041/RMMJ.10341. Rambam Maimonides Med J. 2018. PMID: 30089087 Free PMC article.
40 results