Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
Get full text
Journal Article
Evaluation of acute skin toxicity in breast radiotherapy with a new quantitative approach
González Sanchis, Amparo, Brualla González, Luis, Sánchez Carazo, Jose Luis, Gordo Partearroyo, Jose Carlos, Esteve Martínez, Altea, Vicedo González, Aurora, López Torrecilla, Jose Luis
Published in Radiotherapy and oncology (01.01.2017)
Published in Radiotherapy and oncology (01.01.2017)
Get full text
Journal Article
The perception of the environment through drawing in early childhood education. The case of the wetland of the Albufera in Valencia (Spain)
Sanchis, Amparo Carretón, Ferrandis, Ignacio García, Gómez, Javier García
Published in Journal of outdoor and environmental education (01.12.2022)
Published in Journal of outdoor and environmental education (01.12.2022)
Get full text
Journal Article
Competitive Pressure and Innovation at the Firm Level
Beneito, Pilar, Coscollá-Girona, Paz, Rochina-Barrachina, María Engracia, Sanchis, Amparo
Published in The Journal of industrial economics (01.09.2015)
Published in The Journal of industrial economics (01.09.2015)
Get full text
Journal Article
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C, Ruiz-Pérez, Víctor L, Tizzano, Eduardo F, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
Get full text
Journal Article
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
Get full text
Journal Article
Firms’ distance to the European productivity frontier
Añón Higón, Dolores, Máñez, Juan A., Rochina-Barrachina, María E., Sanchis, Amparo, Sanchis, Juan A.
Published in Eurasian business review (01.06.2022)
Published in Eurasian business review (01.06.2022)
Get full text
Journal Article
THE ROLE OF SUNK COSTS IN THE DECISION TO INVEST IN R&D
MÁÑEZ, JUAN A., ROCHINA-BARRACHINA, MARÍA E., SANCHIS, AMPARO, SANCHIS, JUAN A.
Published in The Journal of industrial economics (01.12.2009)
Published in The Journal of industrial economics (01.12.2009)
Get full text
Journal Article
Ownership and the cyclicality of firms’ R&D investment
Beneito, Pilar, Rochina-Barrachina, María Engracia, Sanchis-Llopis, Amparo
Published in International entrepreneurship and management journal (01.06.2015)
Published in International entrepreneurship and management journal (01.06.2015)
Get full text
Journal Article
FallSkip device is a useful tool for fall risk assessment in sarcopenic older community people
Pérez‐Ros, Pilar, Sanchis‐Aguado, Maria Amparo, Durá‐Gil, Juan V., Martínez‐Arnau, Francisco M., Belda‐Lois, Juan M.
Published in International journal of older people nursing (01.05.2022)
Published in International journal of older people nursing (01.05.2022)
Get full text
Journal Article
Female R&D teams and patents as quality signals in innovative firms
Beneito, Pilar, Rochina-Barrachina, Maria E., Sanchis, Amparo
Published in Economics of innovation and new technology (03.10.2023)
Published in Economics of innovation and new technology (03.10.2023)
Get full text
Journal Article
The Determinants of Survival of Spanish Manufacturing Firms
PÉREZ, SILVIANO ESTEVE, LLOPIS, AMPARO SANCHIS, LLOPIS, JUAN ALBERTO SANCHIS
Published in Review of industrial organization (01.11.2004)
Published in Review of industrial organization (01.11.2004)
Get full text
Journal Article
A competing risks analysis of firms’ exit
Esteve-Pérez, Silviano, Sanchis-Llopis, Amparo, Sanchis-Llopis, Juan A.
Published in Empirical economics (01.04.2010)
Published in Empirical economics (01.04.2010)
Get full text
Journal Article
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
Martinez, Francisco, Marín-Reina, Purificación, Sanchis-Calvo, Amparo, Perez-Aytés, Antonio, Oltra, Silvestre, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Pantoja, Jorge, Orellana, Carmen
Published in Pediatric research (01.11.2015)
Published in Pediatric research (01.11.2015)
Get full text
Journal Article
Do process innovations boost SMEs productivity growth?
Mañez, Juan A., Rochina-Barrachina, María E., Sanchis, Amparo, Sanchis, Juan A.
Published in Empirical economics (01.06.2013)
Published in Empirical economics (01.06.2013)
Get full text
Journal Article
International patenting decisions: empirical evidence with Spanish firms
Beneito, Pilar, Rochina-Barrachina, María Engracia, Sanchis, Amparo
Published in Economia politica (Bologna, Italy) (01.08.2018)
Published in Economia politica (Bologna, Italy) (01.08.2018)
Get full text
Journal Article
Tumor bed segmentation: first step for partial breast irradiation
González Sanchis, Amparo, Brualla González, Luis, Fuster Diana, Carlos, Gordo Partearroyo, Jose Carlos, Garcia-Vilanova Comas, Andres, Lopez Torrecilla, Jose Luis, Roselló Ferrando, Joan
Published in Clinical & translational oncology (2013)
Published in Clinical & translational oncology (2013)
Get full text
Journal Article