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

Year Number of Results
1994 3
1995 1
1996 1
1997 3
1999 5
2001 4
2002 5
2003 1
2004 1
2005 1
2006 1
2007 3
2008 5
2009 7
2010 5
2011 7
2012 9
2013 9
2014 8
2015 14
2016 20
2017 12
2018 5
2019 4
2020 6
2021 4
2022 2
2023 1
2024 0

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122 results

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Page 1
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.
Shahroor MA, Lasorsa FM, Porcelli V, Dweikat I, Di Noia MA, Gur M, Agostino G, Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, Abu-Libdeh B, Elpeleg O, Palmieri L. Shahroor MA, et al. Among authors: shaag a. J Clin Endocrinol Metab. 2022 Apr 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. J Clin Endocrinol Metab. 2022. PMID: 34971397
Grandparental genotyping enhances exome variant interpretation.
Daum H, Mor-Shaked H, Ta-Shma A, Shaag A, Silverstein S, Shohat M, Elpeleg O, Meiner V, Harel T. Daum H, et al. Among authors: shaag a. Am J Med Genet A. 2020 Apr;182(4):689-696. doi: 10.1002/ajmg.a.61511. Epub 2020 Feb 6. Am J Med Genet A. 2020. PMID: 32027463
A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Ramanathan A, Weintraub M, Orlovetskie N, Serruya R, Mani D, Marcu O, Stepensky P, Weisblum Y, Djian E, Shaag A, Revel-Vilk S, Fried I, Kotler M, Rouvinski A, Wolf D, Elpeleg O, Jarrous N. Ramanathan A, et al. Among authors: shaag a. Proc Natl Acad Sci U S A. 2020 Sep 8;117(36):22113-22121. doi: 10.1073/pnas.2009947117. Epub 2020 Aug 25. Proc Natl Acad Sci U S A. 2020. PMID: 32843346 Free PMC article.
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Among authors: shaag a. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S, Cederboim SH, Duvdevani MP, Frumkin A, Zilkha A, Kapuller V, Arbell D, Cohen E, Eventov-Friedman S. Banne E, et al. Among authors: shaag a. JIMD Rep. 2016;26:31-6. doi: 10.1007/8904_2015_474. Epub 2015 Aug 4. JIMD Rep. 2016. PMID: 26238251 Free PMC article.
West syndrome caused by ST3Gal-III deficiency.
Edvardson S, Baumann AM, Mühlenhoff M, Stephan O, Kuss AW, Shaag A, He L, Zenvirt S, Tanzi R, Gerardy-Schahn R, Elpeleg O. Edvardson S, et al. Among authors: shaag a. Epilepsia. 2013 Feb;54(2):e24-7. doi: 10.1111/epi.12050. Epub 2012 Dec 17. Epilepsia. 2013. PMID: 23252400 Free article.
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJ, Elpeleg O. Ta-Shma A, et al. Among authors: shaag a. J Med Genet. 2014 Apr;51(4):268-70. doi: 10.1136/jmedgenet-2013-102100. Epub 2014 Jan 13. J Med Genet. 2014. PMID: 24421281
122 results