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Page 1
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. Among authors: taboas m. Hum Mutat. 2020 Jul;41(7):1187-1208. doi: 10.1002/humu.24030. Epub 2020 May 22. Hum Mutat. 2020. PMID: 32369864
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.
Miller SA, Solari AP, Alberto G, Benitez Medina AC, García Ayré BM, Parisini D, Claps A, Taboas M. Miller SA, et al. Among authors: taboas m. Clin Dysmorphol. 2023 Oct 1;32(4):175-179. doi: 10.1097/MCD.0000000000000469. Epub 2023 Aug 3. Clin Dysmorphol. 2023. PMID: 37646730 No abstract available.
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: taboas m. Clin Endocrinol (Oxf). 2020 Jul;93(1):19-27. doi: 10.1111/cen.14190. Epub 2020 May 3. Clin Endocrinol (Oxf). 2020. PMID: 32289882
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: taboas m. Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172. Genes (Basel). 2022. PMID: 35885957 Free PMC article.