المؤلفون: Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano Orozco, Antonio Gonzalo, Pujol, Aurora

المساهمون: Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica, Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III - European Regional Development Fund. ERDF, a way to build Europe, Instituto de Salud Carlos III (Miguel Servet programme - European Social Fund. ESF investing in your future), la Marato de TV3, Ministerio de Economia, Industria y Competividad (Juan de la Cierva programme), Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia, URDCat program

مصطلحات موضوعية: KCNA1, Kv1.1, WES, Dyskinesia, Neonatal epileptic encephalopathy

Relation: Journal of Medical Genetics (JMG), 57 (2), 132-137.; ACCI14-759; PI14/00581; CPII16/00016; 345/C/2014; FJCI-201628811; 2017SGR1206; PERIS SLT002/16/00174; https://jmg.bmj.com/content/57/2/132; https://idus.us.es/handle//11441/147320

الاتاحة: https://idus.us.es/handle//11441/147320

المؤلفون: Schlüter, Agatha, Vélez Santamaría, Valentina, Verdura, Edgard, Rodríguez Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes Pedret, Christian, Albertí Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás Vila, Miguel, Bullich, Gemma, García Pérez, M. Asunción, Sobrido Gómez, María Jesús, López Laso, Eduardo, Fons, Carme, Toro, Mireia del, Macaya, Alfons, García Cazorla, Àngels, Ortiz Martínez, Antonio José, Ortez, Carlos Ignacio, Cáceres Marzal, Cristina, Martínez Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Antón Airaldi, Ileana, Ruíz Martínez, Javier, Fernández Ramos, Joaquin A., Vázquez, Juan Francisco, Díez Porras, Laura, Vázquez Cancela, María, O’Callaghan, Mar, Pablo Sánchez, Tamara, Nedkova, Velina, Maraña Pérez, Ana Isabel, Beltran, Sergi, Gutiérrez Solana, Luis G., Pérez Jurado, Luis A., Aguilera Albesa, Sergio, López de Munain, Adolfo, Casasnovas, Carlos, Pujol, Aurora, HSP/ATAXIA Workgroup

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Algorismes genètics, Genètica de poblacions, Genetic algorithms, Population Genetics

وصف الملف: 19 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1186/s13073-023-01214-2; Genome Medicine, 2023, vol. 15, num. 1; https://doi.org/10.1186/s13073-023-01214-2; http://hdl.handle.net/2445/205800

الاتاحة: http://hdl.handle.net/2445/205800

المؤلفون: Pijuan, Jordi, Rodríguez-Sanz, María, Natera-de Benito, Daniel, Ortez, Carlos, Altimir, Arola, Osuna-López, Mireia, Roura, Montserrat, Ugalde, Maddi, Van de Vondel, Liedewei, Reina-Castillón, Judith, Fons, Carme, Benítez, Raúl, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc

المساهمون: Fondo de Investigación Sanitaria, Generalitat de Catalunya, European Regional Development Fund, Instituto de Salud Carlos III

المصدر: The Journal of Molecular Diagnostics ; volume 23, issue 1, page 71-90 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2020.10.006
https://api.elsevier.com/content/article/PII:S1525157820305201?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157820305201?httpAccept=text/plain

المؤلفون: Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas Pons, Carlos, Castellano, Antonio, Pujol Onofre, Aurora

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Encefalitis, Malalties neonatals, Encephalitis, Neonatal diseases

وصف الملف: 6 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1136/jmedgenet-2019-106373; Journal of Medical Genetics, 2020, vol. 57, num. 2, p. 132-137; https://doi.org/10.1136/jmedgenet-2019-106373; http://hdl.handle.net/2445/177364; 709066

الاتاحة: http://hdl.handle.net/2445/177364

المؤلفون: François, Clément, Ripollés, Pablo, Ferreri, Laura, Muchart López, Jordi, Sierpowska, Joanna, Fons, Carme, Sole, Jorgina, Rebollo, Monica, Zatorre, Robert J., Garcia Alix, Alfredo, Bosch Galceran, Laura, Rodríguez Fornells, Antoni

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Isquèmia cerebral, Infants, Neurobiologia del desenvolupament, Cerebral ischemia, Children, Developmental neurobiology

وصف الملف: 18 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1523/ENEURO.0447-18.2019; eNeuro, 2019, vol. 6, num. 4; https://doi.org/10.1523/ENEURO.0447-18.2019; http://hdl.handle.net/2445/171493

الاتاحة: http://hdl.handle.net/2445/171493

المؤلفون: Muñoz‐Pujol, Gerard, Ugarteburu, Olatz, Segur‐Bailach, Eulàlia, Moliner, Sonia, Jurado, Susana, Garrabou, Glòria, Guitart‐Mampel, Mariona, García‐Villoria, Judit, Artuch, Rafael, Fons, Carme, Ribes, Antonia, Tort, Frederic

المساهمون: AGAUR, Instituto de Salud Carlos III

المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 6, page 1029-1042 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1002/jimd.12681
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12681

المؤلفون: François, Clément, Ripollés, Pablo, Bosch, Laura, Garcia-Alix, Alfredo, Muchart, Jordi, Sierpowska, Joanna, Fons, Carme, Solé, Jorgina, Rebollo, Monica, Gaitán, Helena, Rodriguez-Fornells, Antoni

المساهمون: Laboratoire Parole et Langage (LPL), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institute of Language, Communication and the Brain (ILCB), Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU), Universitat de Barcelona (UB), Hospital Sant Joan de Déu Barcelona

المصدر: ISSN: 0010-9452.

مصطلحات موضوعية: [SCCO.NEUR]Cognitive science/Neuroscience

الاتاحة: https://hal.science/hal-04446595
https://hal.science/hal-04446595v1/document
https://hal.science/hal-04446595v1/file/Francois_etal_Cortex_2016.pdf
https://doi.org/10.1016/j.cortex.2016.01.010

المؤلفون: García-Villoria, Judit, Navarro-Sastre, Aleix, Fons, Carme, Pérez–Cerdá, Celia, Baldellou, Antonio, Fuentes-Castelló, Miguel Ángel, González, Inmaculada, Hernández-Gonzalez, Arturo, Fernández, Cristina, Campistol, Jaume, Delpiccolo, Carina, Cortés, Nuria, Messeguer, Angel, Briones, Paz, Ribes, Antonia

المصدر: Clinical Biochemistry ; volume 49, issue 1-2, page 197 ; ISSN 0009-9120

الاتاحة: https://doi.org/10.1016/j.clinbiochem.2015.11.012
https://api.elsevier.com/content/article/PII:S0009912015005226?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0009912015005226?httpAccept=text/plain

المؤلفون: Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels

المساهمون: European Union

المصدر: Orphanet Journal of Rare Diseases ; volume 10, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-015-0376-9
http://link.springer.com/content/pdf/10.1186/s13023-015-0376-9
http://link.springer.com/content/pdf/10.1186/s13023-015-0376-9.pdf

المؤلفون: García-Villoria, Judit, Gort, Laura, Madrigal, Irene, Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Milà, Montserrat, Briones, Paz, García-Cazorla, Angeles, Campistol, Jaume, Ribes, Antonia

المصدر: European Journal of Human Genetics ; volume 18, issue 12, page 1353-1355 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2010.118
http://www.nature.com/articles/ejhg2010118.pdf
http://www.nature.com/articles/ejhg2010118

المؤلفون: García-Villoria, Judit, Gort, Laura, Madrigal, Irene, Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Mila, M, Briones, Paz, García-Cazorla, Ma Angeles, Campistol, Jaume, Ribes, Antonia

المصدر: European Journal of Human Genetics ; volume 19, issue 2, page 124-124 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2010.194
http://www.nature.com/articles/ejhg2010194.pdf
http://www.nature.com/articles/ejhg2010194

المؤلفون: Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica, Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III - European Regional Development Fund. ERDF, a way to build Europe, Instituto de Salud Carlos III (Miguel Servet programme - European Social Fund. ESF investing in your future), la Marato de TV3, Ministerio de Economia, Industria y Competividad (Juan de la Cierva programme), Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia, URDCat program, Verdura, Edgard, Fons, Carme, Schlüter, Agatha, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, Castellano Orozco, Antonio Gonzalo, Pujol, Aurora

مصطلحات الفهرس: KCNA1, Kv1.1, WES, Dyskinesia, Neonatal epileptic encephalopathy, info:eu-repo/semantics/article

URL: https://hdl.handle.net/11441/147320
https://jmg.bmj.com/content/57/2/132
Journal of Medical Genetics (JMG), 57 (2), 132-137.
ACCI14-759
PI14/00581
CPII16/00016
345/C/2014
FJCI-201628811
2017SGR1206
PERIS SLT002/16/00174
https://jmg.bmj.com/content/57/2/132

المؤلفون: Casas-Alba, Dídac, Clotet, Jordi, Inarejos, Emilio J., Jou, Cristina, Fons, Carme, Molera, Cristina

المصدر: The Journal of Maternal-Fetal & Neonatal Medicine ; volume 33, issue 6, page 1024-1026 ; ISSN 1476-7058 1476-4954

الاتاحة: http://dx.doi.org/10.1080/14767058.2018.1506442
https://www.tandfonline.com/doi/pdf/10.1080/14767058.2018.1506442

المؤلفون: Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Ponce, Esperanza Castejon, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I., D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels

المصدر: Orphanet Journal of Rare Diseases ; volume 11, issue 1 ; ISSN 1750-1172

الاتاحة: https://doi.org/10.1186/s13023-016-0431-1
http://link.springer.com/content/pdf/10.1186/s13023-016-0431-1.pdf

المؤلفون: Cassis, Linda, Cortès Saladelafont, Elisenda, Molero Luis, Marta, Yubero, Delia, González, Maria Julieta, Herrero, Aida Ormazabal, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O'Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Olivas, Silvia Maria Meavilla, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović Šojat, Ljerka, Dali, Christine I, D'Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia Cazorla, Ángels

مصطلحات موضوعية: Inherited neurometabolic disorders, Medicine (all), AGREE II, Guidelines, Inborn errors of metabolism, Recommendations, Genetics (clinical), Pharmacology (medical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3657::223280a8b7b7cb20d931de42ee6095aa
http://hdl.handle.net/11577/3178423

المؤلفون: Casas-Alba, Dídac, Clotet, Jordi, Inarejos, Emilio J., Jou, Cristina, Fons, Carme, Molera, Cristina

المصدر: Journal of Maternal-Fetal & Neonatal Medicine; Mar2020, Vol. 33 Issue 6, p1024-1026, 3p

مصطلحات موضوعية: INBORN errors of metabolism, HEMOCHROMATOSIS, BLOOD testing, LIVER failure, LACTIC acidosis, MELAS syndrome

المؤلفون: Toledo, Manuel, Poza, Juan José, Becerra, Juan Luis, Eirís, Jesús, Fons, Carme, Rojas, María Luz Ruiz-Falcó, Roldán, Susana

المصدر: Neurology perspectives; 20240101, Issue: Preprints

المؤلفون: García-Villoria, Judit, Navarro-Sastre, Aleix, Fons, Carme, Pérez-Cerdá, Celia, Baldellou, Antonio, Fuentes-Castelló, Miguel Ángel, González, Inmaculada, Hernández-Gonzalez, Arturo, Fernández, Cristina, Campistol, Jaume, Delpiccolo, Carina, Cortés, Nuria, Messeguer, Angel, Briones, Paz, Ribes, Antonia

المصدر: Clinical Biochemistry ; volume 42, issue 1-2, page 27-33 ; ISSN 0009-9120

الاتاحة: http://dx.doi.org/10.1016/j.clinbiochem.2008.10.006
https://api.elsevier.com/content/article/PII:S0009912008005493?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0009912008005493?httpAccept=text/plain

المؤلفون: García-Villoria, Judit, Gort, Laura, Madrigal, Irene, Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Mila, M., Briones, Paz, García-Cazorla, M. Angeles, Campistol, Jaume, Ribes, Antonia

المصدر: European Journal of Human Genetics; Feb2011, Vol. 19 Issue 2, p124-124, 1p

مصطلحات موضوعية: LETTERS to the editor, DEHYDROGENASES