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

Year Number of Results
2008 2
2009 3
2010 2
2012 5
2013 2
2014 3
2015 1
2017 2
2018 3
2019 4
2020 4
2021 2
2022 4
2024 0

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33 results

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Page 1
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: malaquias ac. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
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: malaquias ac. 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.
[Noonan syndrome: from phenotype to growth hormone therapy].
Malaquias AC, Ferreira LV, Souza SC, Arnhold IJ, Mendonça BB, Jorge AA. Malaquias AC, et al. Arq Bras Endocrinol Metabol. 2008 Jul;52(5):800-8. doi: 10.1590/s0004-27302008000500012. Arq Bras Endocrinol Metabol. 2008. PMID: 18797587 Review. Portuguese.
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL. Homma TK, et al. Among authors: malaquias ac. Horm Res Paediatr. 2019;92(2):115-123. doi: 10.1159/000503782. Epub 2019 Nov 12. Horm Res Paediatr. 2019. PMID: 31715605 Review.
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E, Ferreira de Assis Funari M, Pereira de Souza Quedas E, Sayuri Honjo Kawahira R, Soares Jallad R, Homma TK, Martin RM, Brito VN, Malaquias AC, Lerario AM, Rosenberg C, Victorino Krepischi AC, Ae Kim C, Arnhold IJP, Jorge AAL. Vasco de Albuquerque Albuquerque E, et al. Among authors: malaquias ac. Eur J Endocrinol. 2020 Feb;182(2):139-147. doi: 10.1530/EJE-19-0785. Eur J Endocrinol. 2020. PMID: 31751304
33 results