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Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Clin Endocrinol (Oxf). 2020 Jul;93(1):19-27. doi: 10.1111/cen.14190. Epub 2020 May 3.
Clin Endocrinol (Oxf). 2020.
PMID: 32289882
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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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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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M, Massara LS, Espeche LD, Bidondo MP, Barbero P, Oliveri J, Brun P, Fabro M, Galain M, Fernández CS, Taboas M, Bruque CD, Kolomenski JE, Izquierdo A, Berenstein A, Cosentino V, Martinoli C, Vilas M, Rittler M, Mendez R, Furforo L, Liascovich R, Groisman B, Rozental S, Dain L, On Behalf Of The Pid Acm-Cc Group.
Delea M, et al. Among authors: kolomenski je.
Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172.
Genes (Basel). 2022.
PMID: 35885957
Free PMC article.
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