Increasing the complexity: new genes and new types of albinism
Montoliu, Lluís, Grønskov, Karen, Wei, Ai-Hua, Martínez-García, Mónica, Fernández, Almudena, Arveiler, Benoît, Morice-Picard, Fanny, Riazuddin, Saima, Suzuki, Tamio, Ahmed, Zubair M., Rosenberg, Thomas, Li, Wei
Published in Pigment cell and melanoma research (01.01.2014)
Published in Pigment cell and melanoma research (01.01.2014)
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Pilot study of a preventive multicomponent nurse intervention to reduce the incidence and severity of delirium in hospitalized older adults: MID-Nurse-P
Avendaño-Céspedes, Almudena, García-Cantos, Nuria, González-Teruel, María del Mar, Martínez-García, Mónica, Villarreal-Bocanegra, Elena, Oliver-Carbonell, José Luis, Abizanda, Pedro
Published in Maturitas (01.04.2016)
Published in Maturitas (01.04.2016)
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Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report
Carvajal, Nerea, Martínez-García, Mónica, Chagoyen, Monica, Morcillo, Nieves, Pino, Ana, Lorda, I., Trujillo-Tiebas, María José
Published in Gene (15.02.2016)
Published in Gene (15.02.2016)
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Holt-Oram syndrome: study of 7 cases
Martínez-García, Mónica, Lorda-Sanchez, Isabel, García-Hoyos, Maria, Ramos, Carmen, Ayuso, Carmen, Trujillo-Tiebas, María José
Published in Medicina clínica (13.11.2010)
Published in Medicina clínica (13.11.2010)
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Oculodentodigital dysplasia: genetic counselling, reproductive expectatives and molecular assay of a clinical case referred to preimplantational diagnosis
Martínez-García, Mónica, Bustamante-Aragonés, Ana, Lorda, Isabel, Trujillo-Tiebas, María José
Published in Medicina clinica (12.05.2012)
Published in Medicina clinica (12.05.2012)
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Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability
Tran, Viviane, Goyette, Marie-Anne, Martínez-García, Mónica, Jiménez de Domingo, Ana, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Tirado, Pilar, Calleja-Pérez, Beatriz, Álvarez, Sara, Côté, Jean-François, Fernández-Jaén, Alberto
Published in Small GTPases (2022)
Published in Small GTPases (2022)
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Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings
Peraita-Ezcurra, Milena, Martínez-García, Mónica, Ruiz-Pérez, Víctor L., Sánchez-Gutiérrez, María Eugenia, Fenollar-Cortés, María, Vélez-Monsalve, Camilo, Ramos-Corrales, Carmen, Pastor, Ignacio, Santonja, Carlos, Trujillo-Tiebas, María José
Published in Gene (10.05.2012)
Published in Gene (10.05.2012)
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Evaluation of a patient-centered integrated care program for individuals with frequent hospital readmissions and multimorbidity
Piñeiro-Fernández, Juan Carlos, Fernández-Rial, Álvaro, Suárez-Gil, Roi, Martínez-García, Mónica, García-Trincado, Beatriz, Suárez-Piñera, Adrián, Pértega-Díaz, Sonia, Casariego-Vales, Emilio
Published in Internal and emergency medicine (01.04.2022)
Published in Internal and emergency medicine (01.04.2022)
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ANO3 and early-onset dyskinetic encephalopathy
Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto
Published in European journal of medical genetics (01.12.2020)
Published in European journal of medical genetics (01.12.2020)
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Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia
García, Mónica Martínez, Velez, Camilo, Fenollar-Cortés, María, Bustamante, Ana, Lorda-Sanchez, Isabel, Soriano-Guillén, Leandro, Trujillo-Tiebas, María-José
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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