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Year Number of Results
1987 1
1989 1
1990 1
1991 1
1992 1
1994 1
1995 1
1996 1
1999 1
2000 2
2003 1
2004 3
2005 3
2006 3
2007 3
2008 2
2009 4
2010 2
2011 3
2012 4
2013 4
2014 4
2015 3
2016 4
2017 6
2018 9
2019 3
2020 3
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2022 2
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2025 2

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81 results

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Page 1
Skeletal dysplasias in Latin America.
Cavalcanti DP, Fano V, Mellado C, Lacarrubba-Flores MDJ, Silveira C, Silveira KC, Del Pino M, Moresco A, Caino S, Ramos Mejía R, García CJ, Lay-Son G, Ferreira CR. Cavalcanti DP, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):986-995. doi: 10.1002/ajmg.c.31861. Epub 2020 Nov 21. Am J Med Genet C Semin Med Genet. 2020. PMID: 33219737 Free PMC article. Review.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: cavalcanti dp. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
Llerena J Jr, Kim CA, Fano V, Rosselli P, Collett-Solberg PF, de Medeiros PFV, Del Pino M, Bertola D, Lourenço CM, Cavalcanti DP, Félix TM, Rosa-Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Ruz MCH, Baratela W. Llerena J Jr, et al. Among authors: cavalcanti dp. BMC Pediatr. 2022 Aug 19;22(1):492. doi: 10.1186/s12887-022-03505-w. BMC Pediatr. 2022. PMID: 35986266 Free PMC article.
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ. Chang HR, et al. Among authors: cavalcanti dp. Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773278 Free PMC article.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. Among authors: cavalcanti dp. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.
81 results