Nicolas Dell'Oca - Universidad de la Republica de Uruguay

基本信息

Career Trajectory

Bio

Nicolas Dell'Oca currently works at the "Comision honoraria para la Salud Cardiovascular". Nicolas does research in Bioinformatics, Molecular Biology and Genetics. Their current project is 'Familial Hypercholesterolemia'.

Research Interests

Papers共 20 篇Author StatisticsCo-AuthorSimilar Experts

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WCN24-864 Alport Syndrome: genetic variants, phenotypes of kidney disease and association with End Stage Kidney Disease in a Uruguayan Cohort

Federico Yandian,Lucía Spangenberg,Víctor Raggio,Nicolás Dell´Oca, Lucía Urquiola,Santiago Fontenla,Fernanda Domínguez,Camila Simoes, Jessica Segarra,Lucía Facal,Paula Parnizari,Jimena Cabrera,José Tort,Óscar Noboa,Hugo Naya,José Boggia

Kidney International Reportsno. 4 (2024): S335-S336

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Two Mutations in Thesbdsgene Reveal a Diagnosis of Shwachman–Diamond Syndrome in a Patient with Atypical Symptoms

Maria Noel Spangenberg,Sofia Grille,Camila Simoes,Nicolas Dell'Oca,Matilde Boada,Cecilia Guillermo,Victor Raggio,Lucia Spangenberg

Molecular Case Studies（2022）

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Novel Frameshift Mutation in LIS1 Gene is a Probable Cause of Lissencephaly: a Case Report

Simoes Camila,Graña Martín,Rodriguez Soledad, Baltar Yanes Federico,Tapié Alejandra,Dell’Oca Nicolás,Naya Hugo,Raggio Víctor,Spangenberg Lucía

BMC pediatrics（2022）

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Whole Genome Sequencing Reveals a Frameshift Mutation and a Large Deletion in YY1AP1 in a Girl with a Panvascular Artery Disease

Raggio Víctor,Dell’Oca Nicolas,Simoes Camila,Tapié Alejandra,Medici Conrado,Costa Gonzalo,Rodriguez Soledad,Greif Gonzalo, Garrone Estefania, Rovella María Laura, Gonzalez Virgina,Halty Margarita,González Gabriel,Shin Jong-Yeon,Shin Sang-Yoon,Kim Changhoon, Seoul National University Bundang Hospital,Graña Martin, Universidad de la República, Universidad Católica del Uruguay

Human genomics（2021）

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Gene Silencing in the Liver Fluke Fasciola hepatica: RNA Interference

Gabriel Rinaldi,Nicola Prime S. Dell'Oca,Estela Castillo,Jose F. Tort

Methods Mol. Biol.（2020）

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Genética de la hipercolesterolemia familiar

Mario Stoll,Nicolás Dell’Oca

Revista Uruguaya de Cardiologíano. 3 (2019): 239-259

Cited1Views0Bibtex

Síndrome Branquio-Oto-renal. Presentación De Un Caso

Nicolás Dell’Oca, Cecilia Pose, Karina Salmini,Alejandra Tapié,Víctor Raggio

Archivos de Pediatría del Uruguayno. 5 (2019): 283-288

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Results of the National Program for Detection and Care of Familial Hypercholesterolemia In Uruguay

Mario Stoll,Nicolás Dell’Oca,X. Reyes,Andres Ressia, Graciela Fernández,Mario Zelarayan

ATHEROSCLEROSIS SUPPLEMENTS (2018): 53-54

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Description of Molecular Prognostic Markers in AML Uruguayan Patients

Maria Noel Zubillaga,Nicolas Dell Oca,Monica Cappetta,Gonzalo Manrique, Maria Elizondo,Perez Veronica,Jose Tort

Blood（2018）

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