المؤلفون: Lenz, Dominic, Schlieben, Lea D, Shimura, Masaru, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Rüdiger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan Eksi, Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier Luigi, Crushell, Ellen, Dalgıç, Buket, Das, Anibh M, Dezsőfi, Antal, Distelmaier, Felix, Fichtner, Alexander, Freisinger, Peter, Garbade, Sven F, Gaspar, Harald, Goujon, Louise, Hadzic, Nedim, Hartleif, Steffen, Hegen, Bianca, Hempel, Maja, Henning, Stephan, Hoerning, Andre, Houwen, Roderick, Hughes, Joanne, Iorio, Raffaele, Iwanicka-Pronicka, Katarzyna, Jankofsky, Martin, Junge, Norman, Kanavaki, Ino, Kansu, Aydan, Kaspar, Sonja, Kathemann, Simone, Kelly, Deidre, Kırsaçlıoğlu, Ceyda Tuna, Knoppke, Birgit, Kohl, Martina, Kölbel, Heike, Kölker, Stefan, Konstantopoulou, Vassiliki, Krylova, Tatiana, Kuloğlu, Zarife, Kuster, Alice, Laass, Martin W, Lainka, Elke, Lurz, Eberhard, Mandel, Hanna, Mayerhanser, Katharina, Mayr, Johannes A, McKiernan, Patrick, McLean, Patricia, McLin, Valerie, Mention, Karine, Müller, Hanna, Pasquier, Laurent, Pavlov, Martin, Pechatnikova, Natalia, Peters, Bianca, Petković Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Pilic, Denisa, Rajwal, Sanjay, Rock, Nathalie, Roetig, Agnès, Santer, René, Schenk, Wilfried, Semenova, Natalia, Sokollik, Christiane, Sturm, Ekkehard, Taylor, Robert W, Tschiedel, Eva, Urbonas, Vaidotas, Urreizti, Roser, Vermehren, Jan, Vockley, Jerry, Vogel, Georg-Friedrich, Wagner, Matias, van der Woerd, Wendy, Wortmann, Saskia B, Zakharova, Ekaterina, Hoffmann, Georg Friedrich, Meitinger, Thomas, Murayama, Kei, Staufner, Christian, Prokisch, Holger

المساهمون: MDL patientenzorg

مصطلحات موضوعية: Hepatology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/451858Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/451858Test

المؤلفون: Lenz, Dominic, Schlieben, Lea D., Shimura, Masaru, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Ruediger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan E., Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier L., Crushell, Ellen, Dalgic, Buket, Das, Anibh M., Dezsofi, Antal, Distelmaier, Felix, Fichtner, Alexander, Freisinger, Peter, Garbade, Sven F., Gaspar, Harald, Goujon, Louise, Hadzic, Nedim, Hartleif, Steffen, Hegen, Bianca, Hempel, Maja, Henning, Stephan, Hoerning, Andre, Houwen, Roderick, Hughes, Joanne, Iorio, Raffaele, Iwanicka-Pronicka, Katarzyna, Jankofsky, Martin, Junge, Norman, Kanavaki, Ino, Kansu, Aydan, Kaspar, Sonja, Kathemann, Simone, Kelly, Deidre, Kirsaclioglu, Ceyda T., Knoppke, Birgit, Kohl, Martina, Koelbel, Heike, Koelker, Stefan, Konstantopoulou, Vassiliki, Krylova, Tatiana, Kuloglu, Zarife, Kuster, Alice, Laass, Martin W., Lainka, Elke, Lurz, Eberhard, Mandel, Hanna, Mayerhanser, Katharina, Mayr, Johannes A., McKiernan, Patrick, McClean, Patricia, McLin, Valerie, Mention, Karine, Mueller, Hanna, Pasquier, Laurent, Pavlov, Martin, Pechatnikova, Natalia, Peters, Bianca, Petkovic Ramadza, Danijela, Piekutowska-Abramczuk, Dorota, Pilic, Denisa, Rajwal, Sanjay, Rock, Nathalie, Roetig, Agnes, Santer, Rene, Schenk, Wilfried, Semenova, Natalia, Sokollik, Christiane, Sturm, Ekkehard, Taylor, Robert W., Tschiedel, Eva, Urbonas, Vaidotas, Urreizti, Roser, Vermehren, Jan, Vockley, Jerry, Vogel, Georg-Friedrich, Wagner, Matias, van der Woerd, Wendy, Wortmann, Saskia B., Zakharova, Ekaterina, Hoffmann, Georg F., Meitinger, Thomas, Murayama, Kei, Staufner, Christian, Prokisch, Holger

المصدر: Hepatology., Philadelphia : Wolters Kluwer Health, Inc., 2024, Early Access, p. [1-13]. ; ISSN 0270-9139 ; eISSN 1527-3350

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:191527485/191527485.pdfTest; https://repository.vu.lt/VU:ELABAPDB191527485&prefLang=en_USTest

الإتاحة: https://doi.org/10.1097/HEP.0000000000000684Test
https://repository.vu.lt/VU:ELABAPDB191527485&prefLang=en_USTest

المؤلفون: Cao, Xinyu, Lake, Madryn, Van der Hoeven, Gerd, Claes, Zander, del Pino García, Javier, Lemaire, Sarah, Greiner, Elora C., Karamanou, Spyridoula, Van Eynde, Aleyde, Kettenbach, Arminja N., Natera de Benito, Daniel, Carrera García, Laura, Hernando Davalillo, Cristina, Ortez, Carlos, Nascimento, Andrés, Urreizti, Roser, Bollen, Mathieu

المصدر: Nature Communications; 6/25/2024, Vol. 15 Issue 1, p1-17, 17p

مصطلحات موضوعية: PHOSPHOPROTEIN phosphatases, BINDING sites, ADENOSINE triphosphatase, PROTEINS, PROTEIN kinase CK2, PHOSPHORYLATION

المؤلفون: Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana, Serrano, Mercedes, Rabionet Janssen, Raquel, Martin, Miguel A., Urreizti, Roser

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

مصطلحات موضوعية: Malformacions del cor, Oncologia, Neurobiologia del desenvolupament, Heart abnormalities, Oncology, Developmental neurobiology

وصف الملف: 10 p.; application/pdf

العلاقة: Versió postprint del document publicat a: https://doi.org/10.1016/j.pediatrneurol.2024.03.008Test; Pediatric Neurology, 2024, vol. 155, p. 8-17; https://doi.org/10.1016/j.pediatrneurol.2024.03.008Test; http://hdl.handle.net/2445/212444Test; 747540

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2024.03.008Test
http://hdl.handle.net/2445/212444Test

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

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

الإتاحة: https://doi.org/10.1016/j.jchromb.2023.123787Test
http://hdl.handle.net/2445/205767Test

المؤلفون: Cascajo-Almenara, Marivi V., Juliá-Palacios, Natalia., Urreizti, Roser, Sánchez-Cuesta, Ana, Fernández-Ayala, Daniel M., García-Díaz, Elena, Oliva, Clara, O´Callaghan, Maria del Mar, Paredes-Fuentes, Abraham J., Moreno-Lozano, Pedro J., Muchart, Jordi, Nascimento, Andres, Ortez, Carlos I., Natera-de Benito, Daniel, Pineda, Mercedes, Rivera, Noelia, Fortuna, Tyler R., Rajan, Deepa S., Navas, Plácido, Salviati, Leonardo, Palau, Francesc, Yubero, Delia, García-Cazorla, Angels, Pandey, Udai Bhan, Santos-Ocaña, Carlos, Artuch, Rafael

المساهمون: Ministry of Economy and Competitiveness | Instituto de Salud Carlos III

المصدر: European Journal of Human Genetics ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01526-2Test
https://www.nature.com/articles/s41431-023-01526-2.pdfTest
https://www.nature.com/articles/s41431-023-01526-2Test

المؤلفون: Centeno-Pla, Mónica, Alcaide-Consuegra, Estefanía, Gibson, Sophie, Prat-Planas, Aina, Gutiérrez-Ávila, Juan Diego, Grinberg, Daniel, Urreizti, Roser, Rabionet, Raquel, Balcells, Susanna

المساهمون: Ministerio de Ciencia e Innovación, FUNDACIÓ Sant Joan de Déu- Barcelona, Asociación Española del Síndrome Schaaf-Yang, Instituto de Salud Carlos III, Ministerio de Universidades

المصدر: Journal of Medical Genetics ; page jmg-2024-109898 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2024-109898Test

المؤلفون: Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., Urreizti, Roser

المساهمون: Gobierno de España Ministerio de Ciencia e Innovación, Generalitat de Catalunya Agència de Gestió d'Ajuts Universitaris i de Recerca

المصدر: Pediatric Neurology ; volume 155, page 8-17 ; ISSN 0887-8994

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2024.03.008Test
https://api.elsevier.com/content/article/PII:S0887899424000833?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0887899424000833?httpAccept=text/plainTest

المؤلفون: Emperador, Sonia, Habbane, Mouna, López-Gallardo, Ester, del Rio, Alejandro, Llobet, Laura, Mateo, Javier, Sanz-López, Ana María, Fernández-García, María José, Sánchez-Tocino, Hortensia, Benbunan-Ferreiro, Sol, Calabuig-Goena, María, Narvaez-Palazón, Carlos, Fernández-Vega, Beatriz, González-Iglesias, Hector, Urreizti, Roser, Artuch, Rafael, Pacheu-Grau, David, Bayona-Bafaluy, Pilar, Montoya, Julio, Ruiz-Pesini, Eduardo

المصدر: Orphanet Journal of Rare Diseases; 4/6/2024, Vol. 19 Issue 1, p1-10, 10p

مصطلحات موضوعية: GENETIC mutation, GENETIC variation, NEUROPATHY, GENEALOGY, IDENTIFICATION, PHENOTYPES

المؤلفون: Muñoz Pujol, Gerard, Ortigoza Escobar, Juan D., Paredes Fuentes, Abraham J., Jou, Cristina, Ugarteburu López, Olatz, Gort, Laura, Yubero, Delia, Garcia Cazorla, Angels, O'Callaghan, Mar, Campistol, Jaume, Muchart, Jordi., Yépez, Vicente A., Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch Iriberri, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic

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

مصطلحات موضوعية: Mutació (Biologia), Fenotip, Mutation (Biology), Phenotype

وصف الملف: 13 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1111/bpa.13134Test; Brain Pathology, 2023, vol. 33, num. 3, p. e13134-NA; https://doi.org/10.1111/bpa.13134Test; http://hdl.handle.net/2445/207740Test; 9333091

الإتاحة: https://doi.org/10.1111/bpa.13134Test
http://hdl.handle.net/2445/207740Test