المؤلفون: Castilla-Vallmanya, Laura

المساهمون: University/Department: Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística

Thesis Advisors: Balcells Comas, Susanna, Urreizti, Roser, Balcells, Susanna

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Genètica molecular humana, Genética molecular humana, Human molecular genetics, Neurobiologia del desenvolupament, Neurobiología del desarrollo, Developmental neurobiology, Malalties rares, Enfermedades raras, Rare diseases, Diagnòstic, Diagnóstico, Diagnosis, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/674338

المؤلفون: Horváth, Vivien, Garza, Raquel, Jönsson, Marie E, Johansson, Pia A, Adami, Anita, Christoforidou, Georgia, Karlsson, Ofelia, Castilla Vallmanya, Laura, Koutounidou, Symela, Gerdes, Patricia, Pandiloski, Ninoslav, Douse, Christopher H, Jakobsson, Johan

المصدر: Nature Structural & Molecular Biology StemTherapy: National Initiative on Stem Cells for Regenerative Therapy MultiPark: Multidisciplinary research focused on Parkinson´s disease. 31(10):1543-1556

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/a6ad8713-c557-4a3c-ad5e-b0af06028765
https://portal.research.lu.se/files/188379061/publication_in_nature_structural_molecular_biology.pdf
http://dx.doi.org/10.1038/s41594-024-01320-8

المؤلفون: Castilla-Vallmanya, Laura, Centeno-Pla, Mónica, Serrano, Mercedes, Franco-Valls, Héctor, Martínez-Cabrera, Raúl, Prat-Planas, Aina, Rojano, Elena, Ranea, Juan A G, Seoane, Pedro, Oliva, Clara, Paredes-Fuentes, Abraham J, Marfany i Nadal, Gemma, Artuch, Rafael, Grinberg Vaisman, Daniel Raúl, Rabionet Janssen, Raquel, Balcells Comas, Susana, Urreizti, Roser

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Síndrome de Prader-Willi, Errors congènits del metabolisme, Síndromes, Trastorns del metabolisme, Prader-Willi syndrome, Inborn errors of metabolism, Syndromes, Disorders of metabolism

وصف الملف: 34 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1136/jmg-2022-108690; Journal of Medical Genetics, 2022; https://doi.org/10.1136/jmg-2022-108690; http://hdl.handle.net/2445/193661; 725256

الاتاحة: http://hdl.handle.net/2445/193661

المؤلفون: Oliva, Clara, Arias, Ángela, Ruiz, Montserrat, Pujol Onofre, Aurora, Garrabou Tornos, Glòria, Cantó Santos, Judith, Urreizti, Roser, Castilla Vallmanya, Laura, Rodríguez González, Helena, Jou, Cristina, Casado Río, Mercedes, Ormazabal Herrero, Aida, Artuch Iriberri, Rafael

المصدر: Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

مصطلحات موضوعية: Aminoàcids, Metabolisme, Amino acids, Metabolism

وصف الملف: 15 p.; application/pdf

Relation: Postprint del document publicat a: https://doi.org/10.1016/j.jchromb.2023.123787; Journal Of Chromatography B-Analytical Technologies In The Biomedical And Life Sciences, 2023, vol 1226; https://doi.org/10.1016/j.jchromb.2023.123787; http://hdl.handle.net/2445/205767; 9374354

الاتاحة: http://hdl.handle.net/2445/205767

المؤلفون: Benetó, Noelia, Cozar, Monica, Castilla-Vallmanya, Laura, Zetterdahl, Oskar G, Sacultanu, Madalina, Segur-Bailach, Eulalia, García-Morant, María, Ribes, Antonia, Ahlenius, Henrik, Grinberg, Daniel, Vilageliu, Lluïsa, Canals, Isaac

المصدر: Journal of Clinical Medicine StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 9(3)

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences, Cell- och molekylärbiologi, Cell and Molecular Biology

URL الوصول: https://lup.lub.lu.se/record/5f5e43f1-9efd-4252-b9f7-aaab1e785bd2
http://dx.doi.org/10.3390/jcm9030644

المؤلفون: Castilla-Vallmanya, Laura, Gürsoy, Semra, Bozkaya, Özlem Giray, Prats-Planas, Aina, Bullich, Gemma, Matalonga, Leslie, Centeno-Pla, Mónica, Rabionet Janssen, Raquel, Grinberg, Daniel, Balcells, Susana, Urreizti, Roser

مصطلحات موضوعية: Genètica mèdica, Consanguinitat, Tractament dels trastorns del neurodesenvolupament

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/ES/1PE/SAF2016-75946R; http://hdl.handle.net/10230/53091; http://dx.doi.org/10.3390/ijms22041549

الاتاحة: http://hdl.handle.net/10230/53091
https://doi.org/10.3390/ijms22041549

المؤلفون: Castilla Vallmanya, Laura, Gürsoy, Semra, Giray Bozkaya, Özlem, Prat-Planas, Aina, Bullich, Gemma, Matalonga Borrel, Lesley, Centeno-Pla, Mónica, Rabionet Janssen, Raquel, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana, Urreizti, Roser

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Genètica del desenvolupament, Consanguinitat, Lesions cerebrals, Developmental genetics, Consanguinity, Brain damage

وصف الملف: 10 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.3390/ijms22041549; International Journal of Molecular Sciences, 2021, vol. 22, num. 4, p. 1549; https://doi.org/10.3390/ijms22041549; http://hdl.handle.net/2445/175255; 706589

الاتاحة: http://hdl.handle.net/2445/175255

المؤلفون: Castilla-Vallmanya, Laura, Selmer, Kaja K, Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R F, van Essen, Antonie J, Oufadem, Myriam, Vigeland, Magnus D, Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W, Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K, Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M, Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara L., Beaver, Erin M., Heeley, Jennifer M., Briere, Lauren C., High, Frances A., Sweetser, David A, Walker, Melissa A., Keegan, Catherine E., Jayaker, Paul, Shinawi, Marwan, Kerstjens, Mieke, Earl, Dawn L, Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie T., Karlowicz , Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M, Slavotinek, Anne, Barbouth, Deborah, Morel Swols, Dayna, Parisot, Mélanie, Bole-Feysot, Christine, Nitschke, Patrick, Pingault , Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells , Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti , Roser, Gordon, Christopher T.

المصدر: Undiagnosed Diseases Network, Care4Rare Canada Consortium , Castilla-Vallmanya , L , Selmer , K K , Dimartino , C , Rabionet , R , Blanco-Sánchez , B , Yang , S , Reijnders , M R F , van Essen , A J , Oufadem , M , Vigeland , M D , Stadheim , B , Houge , G , Cox , H , Kingston , H , Clayton-Smith , J , Innis , J W , Iascone , M , Cereda , A , Gabbiadini , S , Chung , W K , Sanders , V , ....

مصطلحات موضوعية: TRAF7, craniofacial development, intellectual disability, blepharophimosis, patent ductus arteriosus, NF-KAPPA-B, GENOMIC ANALYSIS, MUTATIONS, POLYUBIQUITINATION, MENINGIOMAS, ACTIVATION, PROTEIN, TARGET, LEADS, AKT1

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/8e8998ec-ccaa-455e-a596-da5510dffa04

الاتاحة: https://hdl.handle.net/11370/8e8998ec-ccaa-455e-a596-da5510dffa04
https://research.rug.nl/en/publications/8e8998ec-ccaa-455e-a596-da5510dffa04
https://doi.org/10.1038/s41436-020-0792-7
https://pure.rug.nl/ws/files/126534065/Phenotypic_spectrum_and_transcriptomic_profile_associated.pdf

المؤلفون: Urreizti, Roser, López Martín, Estrella, Martínez Monseny, Antonio Federico, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez Jurado, Luis Alberto, Serrano, Mercedes L., Natera de Benito, Daniel, Martínez Delgado, Beatriz, Posada de la Paz, Manuel, Alonso, Javier, Marín Reina, Purificación, O'Callaghan, Mar, Grinberg, Daniel, Bermejo Sánchez, Eva, Balcells, Susana

مصطلحات موضوعية: Clinical characterization, Clinical genetics, KAT6A, Neurodevelopmental disease, Whole exome sequencing

وصف الملف: application/pdf

Relation: Orphanet J Rare Dis. 2020; 15(1):44; info:eu-repo/grantAgreement/EC/FP7/313010; info:eu-repo/grantAgreement/ES/1PE/SAF2016–75948-R; http://hdl.handle.net/10230/44304

الاتاحة: http://hdl.handle.net/10230/44304
https://doi.org/10.1186/s13023-020-1317-9

المؤلفون: Leon, Eyby, Diaz, Jullianne, Castilla-Vallmanya, Laura, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana, Urreizti, Roser

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Malalties hereditàries, Mutació (Biologia), Mortalitat infantil, Genetic diseases, Mutation (Biology), Infant mortality

وصف الملف: 4 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1002/ajmg.a.61397; American Journal of Medical Genetics Part A, 2020, vol. 182, num. 1, p. 201-204; https://doi.org/10.1002/ajmg.a.61397; http://hdl.handle.net/2445/195119; 692482

الاتاحة: http://hdl.handle.net/2445/195119

المؤلفون: Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A.L., Plasencia, Guillem, Gelb, Bruce D., Grinberg Vaisman, Daniel Raúl, Brinkmann, Ulrich, Webb, Bryn D., Balcells Comas, Susana

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Proteïnes, Malalties neurodegeneratives, Proteins, Neurodegenerative Diseases

وصف الملف: 12 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1038/s41431-019-0374-9; European Journal of Human Genetics, 2020, vol. 28, num. 1, p. 64-75; https://doi.org/10.1038/s41431-019-0374-9; http://hdl.handle.net/2445/195034; 687509

الاتاحة: http://hdl.handle.net/2445/195034

المؤلفون: Manson, Samantha, Castilla Vallmanya, Laura, Con, James, Andrews, P. Ian, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Kirk, E.P., Urreizti, Roser

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Glicolípids, Trastorns del desenvolupament, Glycolipids, Developmental disabilities

وصف الملف: 6 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1097/MD.0000000000014524; Medicine, 2019, vol. 98, num. 8, p. e14529; https://doi.org/10.1097/MD.0000000000014524; http://hdl.handle.net/2445/149573; 684924

الاتاحة: http://hdl.handle.net/2445/149573

المؤلفون: Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna

المصدر: European Journal of Human Genetics ; volume 28, issue 1, page 64-75 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-019-0374-9
http://www.nature.com/articles/s41431-019-0374-9.pdf
http://www.nature.com/articles/s41431-019-0374-9

المؤلفون: Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser

المصدر: Medicine ; volume 98, issue 8, page e14524 ; ISSN 0025-7974 1536-5964

الاتاحة: http://dx.doi.org/10.1097/md.0000000000014524
https://journals.lww.com/00005792-201902220-00037

المؤلفون: Oliva, Clara, Arias, Angela, Ruiz, Montserrat, Pujol, Aurora, Garrabou, Gloria, Canto-Santos, Judith, Urreizti, Roser, Castilla-Vallmanya, Laura, Rodriguez-Gonzalez, Helena, Jou, Cristina, Casado, Mercedes, Ormazabal, Aida, Artuch, Rafael

المصدر: Journal of Chromatography B ; volume 1226, page 123787 ; ISSN 1570-0232

الاتاحة: http://dx.doi.org/10.1016/j.jchromb.2023.123787
https://api.elsevier.com/content/article/PII:S1570023223001976?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1570023223001976?httpAccept=text/plain

المؤلفون: Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raúl, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

مصطلحات موضوعية: Genetics research, Molecular medicine

وصف الملف: application/pdf

Relation: Scientific Reports. 2018;8(1):694; info:eu-repo/grantAgreement/ES/1PE/SAF2014-56562-R; info:eu-repo/grantAgreement/ES/1PE/SAF2016-75948-R; http://hdl.handle.net/10230/43127

الاتاحة: http://hdl.handle.net/10230/43127
https://doi.org/10.1038/s41598-017-19109-9

المؤلفون: Urreizti, Roser, Gürsoy, Semra, Castilla-Vallmanya, Laura, Cunill, Guillem, Rabionet Janssen, Raquel, Erçal, Derya, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)

مصطلحات موضوعية: Mutació (Biologia), Malalties, Genètica humana, Mutation (Biology), Diseases, Human genetics

وصف الملف: 5 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1002/ccr3.1603; Clinical Case Reports, 2018, vol. 6, num. 8, p. 1452-1456; https://doi.org/10.1002/ccr3.1603; http://hdl.handle.net/2445/162801; 680190

الاتاحة: http://hdl.handle.net/2445/162801

المؤلفون: Castilla-Vallmanya, Laura, Gursoy, Semra, Urreizti, Roser, Grinberg, Daniel, Balcells, Susana, Ercal, Derya, Rabionet, Raquel, Cunill, Guillem

Relation: c6037e92-09da-4427-b046-73409c8df377; https://avesis.deu.edu.tr/publication/details/c6037e92-09da-4427-b046-73409c8df377/oai

الاتاحة: https://doi.org/10.1002/ccr3.1603
https://avesis.deu.edu.tr/publication/details/c6037e92-09da-4427-b046-73409c8df377/oai

المؤلفون: Castilla-Vallmanya, Laura, Centeno-Pla, Mónica, Serrano, Mercedes, Franco-Valls, Héctor, Martínez-Cabrera, Raúl, Prat-Planas, Aina, Rojano, Elena, Ranea, Juan A. G., Seoane, Pedro, Oliva, Clara, Paredes-Fuentes, Abraham J., Marfany, Gemma, Artuch, Rafael, Grinberg, Daniel, Rabionet, Raquel, Balcells, Susanna, Urreizti, Roser

المصدر: Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p406-415, 34p

المؤلفون: Castilla-Vallmanya, Laura

المساهمون: Balcells Comas, Susanna, Urreizti, Roser, Balcells, Susanna, Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Genètica molecular humana, Genética molecular humana, Human molecular genetics, Neurobiologia del desenvolupament, Neurobiología del desarrollo, Developmental neurobiology, Malalties rares, Enfermedades raras, Rare diseases, Diagnòstic, Diagnóstico, Diagnosis, Ciències Experimentals i Matemàtiques

Time: 575

وصف الملف: 300 p.; application/pdf

Relation: http://hdl.handle.net/10803/674338

الاتاحة: http://hdl.handle.net/10803/674338