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Partial 1q Duplications and Associated Phenotype.
Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 4.
Mol Syndromol. 2016.
PMID: 27022331
Free PMC article.
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
Polla DL, Cardoso MT, Silva MC, Cardoso IC, Medina CT, Araujo R, Fernandes CC, Reis AM, de Andrade RV, Pereira RW, Pogue R.
Polla DL, et al. Among authors: medina ct.
PLoS One. 2015 Sep 18;10(9):e0138314. doi: 10.1371/journal.pone.0138314. eCollection 2015.
PLoS One. 2015.
PMID: 26380986
Free PMC article.
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Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Medina CTN, Sandoval R, Oliveira G, da Costa Silveira K, Cavalcanti DP, Pogue R.
Medina CTN, et al.
Am J Med Genet A. 2020 Apr;182(4):681-688. doi: 10.1002/ajmg.a.61460. Epub 2020 Jan 5.
Am J Med Genet A. 2020.
PMID: 31903676
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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.
Sandoval RL, Zaconeta CM, Margotto PR, Cardoso MT, França EM, Medina CT, Canó TM, Faria AS.
Sandoval RL, et al. Among authors: medina ct.
Rev Paul Pediatr. 2016 Sep;34(3):374-8. doi: 10.1016/j.rpped.2015.10.009. Epub 2016 Jan 6.
Rev Paul Pediatr. 2016.
PMID: 26838603
Free PMC article.
Review.
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Blepharophimosis-ptosis-epicanthus inversus syndrome.
Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA.
Graziadio C, et al. Among authors: medina ct.
Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x.
Pediatr Int. 2011.
PMID: 21696507
No abstract available.
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