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

Year Number of Results
2010 2
2011 3
2012 5
2013 5
2014 11
2015 5
2016 8
2017 4
2018 8
2019 7
2020 11
2021 11
2022 14
2023 14
2024 9

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95 results

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Page 1
SCAF4-related syndromic intellectual disability.
Carvalho LML, Pinto CF, de Oliveira Scliar M, Otto PA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Am J Med Genet A. 2023 Feb;191(2):570-574. doi: 10.1002/ajmg.a.63032. Epub 2022 Nov 5. Am J Med Genet A. 2023. PMID: 36333968
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM, Funari MFA, Malaquias AC, Collett-Solberg PF, Gomes NLRA, Scalco R, Dantas NCB, Rezende RC, Tiburcio AMFP, Souza MAR, Freire BL, Krepischi ACV, Longui CA, Lerario AM, Arnhold IJP, Jorge AAL, Vasques GA. Andrade NLM, et al. Among authors: krepischi acv. Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36373817 Free PMC article.
Genetic investigation of syndromic forms of obesity.
Carvalho LML, D'Angelo CS, Villela D, da Costa SS, de Lima Jorge AA, da Silva IT, de Oliveira Scliar M, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Carvalho LML, et al. Int J Obes (Lond). 2022 Sep;46(9):1582-1586. doi: 10.1038/s41366-022-01149-5. Epub 2022 May 21. Int J Obes (Lond). 2022. PMID: 35597848
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, E Passos-Bueno MRDS, Oliveira Mendes TA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903
95 results