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Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
J Dent Res. 2023 Jun;102(6):616-625. doi: 10.1177/00220345231154569. Epub 2023 Mar 23.
J Dent Res. 2023.
PMID: 36951356
ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.
Ramos AKS, Caldas-Rosa ECC, Ferreira BM, Versiani BR, Moretti PN, de Oliveira SF, Pic-Taylor A, Mazzeu JF.
Ramos AKS, et al. Among authors: caldas rosa ecc.
Am J Med Genet A. 2023 Feb;191(2):599-604. doi: 10.1002/ajmg.a.63052. Epub 2022 Nov 23.
Am J Med Genet A. 2023.
PMID: 36416207
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF.
Lima AR, et al. Among authors: caldas rosa ecc.
Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10.
Hum Mutat. 2022.
PMID: 35344616
Free PMC article.
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