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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172.
Genes (Basel). 2022.
PMID: 35885957
Free PMC article.
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L, Bruque CD, Fernández CS, Benavides-Mori B, Delea M, Kolomenski JE, Espeche LD, Buzzalino ND, Nadra AD, Dain L.
Simonetti L, et al. Among authors: kolomenski je.
Hum Mutat. 2018 Jan;39(1):5-22. doi: 10.1002/humu.23351. Epub 2017 Nov 6.
Hum Mutat. 2018.
PMID: 29035424
Review.
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Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS, Taboas M, Bruque CD, Benavides-Mori B, Belli S, Stivel M, Oneto A, Pasqualini T, Delea M, Espeche LD, Kolomenski JE, Alba L, Buzzalino N, Dain L.
Fernández CS, et al. Among authors: kolomenski je.
Clin Endocrinol (Oxf). 2020 Jul;93(1):19-27. doi: 10.1111/cen.14190. Epub 2020 May 3.
Clin Endocrinol (Oxf). 2020.
PMID: 32289882
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An update on genetic variants of the NKX2-5.
Kolomenski JE, Delea M, Simonetti L, Fabbro MC, Espeche LD, Taboas M, Nadra AD, Bruque CD, Dain L.
Kolomenski JE, et al.
Hum Mutat. 2020 Jul;41(7):1187-1208. doi: 10.1002/humu.24030. Epub 2020 May 22.
Hum Mutat. 2020.
PMID: 32369864
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