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

Year Number of Results
2001 1
2008 5
2009 1
2010 6
2011 3
2012 2
2013 1
2014 4
2015 2
2017 2
2022 2
2024 0

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27 results

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Page 1
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA. Parthasarathy S, et al. Among authors: soardi fc. Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413998 Free PMC article.
Familial STAG2 germline mutation defines a new human cohesinopathy.
Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV, Ascher DB, Yu H, Pena SDJ. Soardi FC, et al. NPJ Genom Med. 2017 Mar 20;2:7. doi: 10.1038/s41525-017-0009-4. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263825 Free PMC article.
Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.
Santos MG, Machado AZ, Martins CN, Domenice S, Costa EM, Nishi MY, Ferraz-de-Souza B, Jorge SA, Pereira CA, Soardi FC, de Mello MP, Maciel-Guerra AT, Guerra-Junior G, Mendonca BB. Santos MG, et al. Among authors: soardi fc. Biomed Res Int. 2014;2014:787465. doi: 10.1155/2014/787465. Epub 2014 Jun 26. Biomed Res Int. 2014. PMID: 25054146 Free PMC article.
Frasier syndrome: four new cases with unusual presentations.
Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP. Guaragna MS, et al. Among authors: soardi fc. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):525-32. doi: 10.1590/s0004-27302012000800011. Arq Bras Endocrinol Metabol. 2012. PMID: 23295293
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.
Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S. Guaragna MS, et al. Among authors: soardi fc. J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d. J Pediatr Hematol Oncol. 2010. PMID: 20562648
27 results