Núria Camats-Tarruella (Núria Camats)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 9

Top Venues

Cells

International journal of molecular sciences

Journal of clinical medicine

European journal of human genetics : EJHG

Vall d'Hebron Institut de Recerca. Hospital Universitari Vall d'Hebron

Universitat Autonoma de Barcelona (UAB) (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Vall d'Hebron Institut de Recerca. Hospital Universitari Vall d'Hebron

Spain

Postdoctoral Researcher :: Growth and Development Group

Centro de Investigación Biomédica en Red de Enfermedades Raras

Spain

Postdoctoral Researcher :: U-712

Vall d'Hebron Institut de Recerca.

Spain

Postdoctoral Researcher :: Growth and Development Group

University Children's Hospital Bern

Switzerland

Postdoctoral Research Fellow :: Laboratory of Steroids Research. Dept of Paediatrics and Clinical Research.

Vall d'Hebron Institut de Recerca. Hospital Universitari Vall d'Hebron

Spain

Postdoctoral Researcher :: Paediatrics Endocrinology Lab. Dept Paediatric Endocrinology.

Hospital Universitari Vall d'Hebron.

Spain

Responsible for Foetal Tissue Bank :: Dept of Pathology. Dept of Obstetrics.

Universitat Autònoma de Barcelona (UAB)

Spain

Assistant Professor :: Faculty of Medicine. Dept Cellular Biology, Fisiology and Immunology

Balagué Center

Spain

Biologist :: Genetics Department

Education History

Universitat Autonoma de Barcelona (UAB)

Spain

PHD :: Dept Cellular Biology, Fisiology and Immunology

Publications

Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. Cells 13 (6) (2024)
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste Fernández
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation. International journal of molecular sciences 25 (15) (2024)
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. Cells 13 (6) (2024)
Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella, Gemma Marfany
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene. Cells 13 (6) (2024)
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste Fernández
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation. International journal of molecular sciences 25 (15) (2024)
María Clemente León, Patricia Cobo, Maria Antolin, Ariadna Campos-Martorell, Diego Yeste Fernández, Rosangela Tomasini, María Caimarí, Miriam Masas, Elena Garcia-Arumí, Mónica Fernández-Cancio, Noelia Baz-Redón, Núria Camats-Tarruella
Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8. The Journal of clinical endocrinology and metabolism (2023)
Noelia Baz-Redón, Sandra Rovira-Amigo, Mónica Fernández-Cancio, Silvia Castillo-Corullon, Maria Cols, María Araceli Caballero-Rabasco, Óscar Asensio, Carlos Martín de Vicente, Maria Del Mar Martínez-Colls, Alba Torrent Vernetta, Inés de Mir-Messa, Silvia Gartner, Ignacio Iglesias-Serrano, Ana Díez-Izquierdo, Eva Polverino, Esther Amengual-Pieras, Rosanel Amaro-Rodríguez, Montserrat Vendrell, Marta Mumany, María Teresa Pascual-Sánchez, Belén Pérez-Dueñas, Ana Reula, Amparo Escribano, Francisco Dasí, Miguel Armengot-Carceller, Marta Garrido-Pontnou, Núria Camats-Tarruella, Antonio Moreno-Galdó
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia. Journal of clinical medicine 9 (11) (2020)
Núria Camats-Tarruella, Mónica Fernández-Cancio, Laura Audí, André Schaller, Christa E Flück
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics : EJHG 26 (9) (2018)
Mónica Fernández-Cancio, Núria Camats-Tarruella, Christa E Flück, Adam Zalewski, Bernhard Dick, Brigitte M Frey, Raquel Monné, Núria Torán, Laura Audí, Amit V Pandey
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency. Pharmaceuticals (Basel, Switzerland) 11 (2) (2018)

Núria Camats-Tarruella.css-eqlu8i{font-size:small;padding-left:4px;} (Núria Camats)

Publication Activity (10 Years)

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Núria Camats-Tarruella (Núria Camats)