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Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country.
da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team. da Silva Filho LVRF, et al. Among authors: kok f. J Cyst Fibros. 2021 May;20(3):473-484. doi: 10.1016/j.jcf.2020.08.007. Epub 2020 Aug 18. J Cyst Fibros. 2021. PMID: 32819855 Free article.
Autosomal recessive ataxias: 20 types, and counting.
Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Embiruçu EK, et al. Among authors: kok f. Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036. Arq Neuropsiquiatr. 2009. PMID: 20069237 Free article. Review.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: kok f. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD. Zanardo ÉA, et al. Among authors: kok f. J Mol Diagn. 2020 Aug;22(8):1041-1049. doi: 10.1016/j.jmoldx.2020.05.007. Epub 2020 Jun 1. J Mol Diagn. 2020. PMID: 32497716 Free article.
608 results