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2011 1
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18 results

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Page 1
Kinase Inhibitors in Genetic Diseases.
D'Antona L, Amato R, Brescia C, Rocca V, Colao E, Iuliano R, Blazer-Yost BL, Perrotti N. D'Antona L, et al. Among authors: colao e. Int J Mol Sci. 2023 Mar 9;24(6):5276. doi: 10.3390/ijms24065276. Int J Mol Sci. 2023. PMID: 36982349 Free PMC article. Review.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: colao e. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, Nisticò SP, Colao E, Perrotti N, Iuliano R. Contrò G, et al. Among authors: colao e. Hum Genome Var. 2019 Jun 20;6:30. doi: 10.1038/s41439-019-0062-x. eCollection 2019. Hum Genome Var. 2019. PMID: 31240106 Free PMC article.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy. Brancati F, et al. Among authors: colao e. Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891882 Free PMC article.
New SLC12A3 disease causative mutation of Gitelman's syndrome.
Grillone T, Menniti M, Bombardiere F, Vismara MF, Belviso S, Fabiani F, Perrotti N, Iuliano R, Colao E. Grillone T, et al. Among authors: colao e. World J Nephrol. 2016 Nov 6;5(6):551-555. doi: 10.5527/wjn.v5.i6.551. World J Nephrol. 2016. PMID: 27872838 Free PMC article.
A case of premature ovarian failure in a 33-year-old woman.
Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P. Colao E, et al. Case Rep Genet. 2013;2013:573841. doi: 10.1155/2013/573841. Epub 2013 Jan 29. Case Rep Genet. 2013. PMID: 23509644 Free PMC article.
18 results