부산대학교 도서관

Goicoechea-Calvo A; Department of Rehabilitation, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Department of Pediatrics, Obstetrics and Gynecology, Preventive Medicine and Public Health, Faculty of Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Navarro Expósito N; Department of Rehabilitation, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Coll-Fernández R; Department of Rehabilitation, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Colomer Giralt M; Department of Rehabilitation, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Martín Saavedra A; Department of Rehabilitation, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; González-Aumatell A; Department of Pediatrics, Obstetrics and Gynecology, Preventive Medicine and Public Health, Faculty of Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Department of Pediatrics, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Méndez-Hernández M; Department of Pediatrics, Obstetrics and Gynecology, Preventive Medicine and Public Health, Faculty of Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Department of Pediatrics, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Carreras-Abad C; Department of Pediatrics, Obstetrics and Gynecology, Preventive Medicine and Public Health, Faculty of Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Department of Pediatrics, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Moreira M; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Child and Adolescent Psychiatry Department, Germans Trias I Pujol University Hospital, 08916 Badalona, Spain.; Psychiatry and Legal Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Giralt-López M; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Child and Adolescent Psychiatry Department, Germans Trias I Pujol University Hospital, 08916 Badalona, Spain.; Psychiatry and Legal Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Pallarès N; Biostatistics Support and Research Unit, Germans Trias i Pujol Research Institute and Hospital (IGTP), 08916 Badalona, Spain.; Tebe Cordomi C; Biostatistics Support and Research Unit, Germans Trias i Pujol Research Institute and Hospital (IGTP), 08916 Badalona, Spain.; Rodríguez-Palmero A; Department of Pediatrics, Obstetrics and Gynecology, Preventive Medicine and Public Health, Faculty of Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Department of Pediatrics, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Rodrigo C; Department of Pediatrics, Obstetrics and Gynecology, Preventive Medicine and Public Health, Faculty of Medicine, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.; Department of Pediatrics, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, Spain.; Mata MJD; Department of Rehabilitation, Germans Trias i Pujol University Hospital, 08916 Badalona, Spain.; Department of Medicinet, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Spain.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Mastrangelo M; Woman/Child Health and Urological Sciences Department- Sapienza University of Rome, Rome, Italy; Unit of Child Neurology and Psychiatry- Department of Neuroscience/Mental Health-Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy. Electronic address: mario.mastrangelo@uniroma1.it.; Tolve M; Unit of Clinical Pathology- Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy.; Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Lentini G; Department of Human Neuroscience-Sapienza University of Rome, Rome, Italy.; Cinnante EMC; Department of Human Neuroscience-Sapienza University of Rome, Rome, Italy.; Masotto B; Clinical Genetics Department, Laboratori Clínic de la Metropolitana Nord, Hospital Universitari Germans Trias i Pujol, Barcelona, Spain; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Grande Ospedale Maggiore Policlinico, Milan, Italy.; Rosenblum J; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Milani D; Fondazione IRCCS Ca'Granda Ospedale Maggiore, Milan, Italy.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Jansen AC; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Pisani F; Unit of Child Neurology and Psychiatry- Department of Neuroscience/Mental Health-Azienda Ospedaliero Universitaria Policlinico Umberto, Rome, Italy; Department of Human Neuroscience-Sapienza University of Rome, Rome, Italy.

Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Launay N; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases, (CIBERER U759) Ministry of Science Innovation and University, Madrid, Spain.; Espinosa-Alcantud M; Chromatin Biology Laboratory, Josep Carreras Leukaemia Research Institute, Badalona, Spain.; Verdura E; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Fernández-Eulate G; Nord-Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.; Department of Neurology, Hospital Universitario Donostia, OSAKIDETZA-Department of Neurosciences, University of the Basque Cpuntry, San Sebastian, Spain.; Ondaro J; Department of Neurosciences, Instituto Biodonostia, San Sebastián, Spain.; Center of Biomedical Research in Neurodegenerative Diseases (CIBERNED), CIBER, Ministry of Science, Innovation and University, Madrid, Spain.; Iruzubieta P; Department of Neurology, Hospital Universitario Donostia, OSAKIDETZA-Department of Neurosciences, University of the Basque Cpuntry, San Sebastian, Spain.; Department of Neurosciences, Instituto Biodonostia, San Sebastián, Spain.; Center of Biomedical Research in Neurodegenerative Diseases (CIBERNED), CIBER, Ministry of Science, Innovation and University, Madrid, Spain.; Department of Medicine, School of Medicine, University of Deusto, Bilbao, Spain.; Marsal M; ICFO-Institut de Ciencies Fotoniques, The Barcelona Institute of Science and Technology, Castelldefels, Spain.; Schlüter A; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Ruiz M; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases, (CIBERER U759) Ministry of Science Innovation and University, Madrid, Spain.; Fourcade S; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases, (CIBERER U759) Ministry of Science Innovation and University, Madrid, Spain.; Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases, (CIBERER U759) Ministry of Science Innovation and University, Madrid, Spain.; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Germans Trias i Pujol, Autonomous University of Barcelona, Badalona, Spain.; Zulaica M; Department of Neurosciences, Instituto Biodonostia, San Sebastián, Spain.; Sistiaga A; Center of Biomedical Research in Neurodegenerative Diseases (CIBERNED), CIBER, Ministry of Science, Innovation and University, Madrid, Spain.; Department of Personality, Assessment and Psychological Treatment Faculty of Psychology, University of the Basque Country (UPV/EHU), San Sebastian, Spain.; Labayru G; Center of Biomedical Research in Neurodegenerative Diseases (CIBERNED), CIBER, Ministry of Science, Innovation and University, Madrid, Spain.; Department of Personality, Assessment and Psychological Treatment Faculty of Psychology, University of the Basque Country (UPV/EHU), San Sebastian, Spain.; Loza-Alvarez P; ICFO-Institut de Ciencies Fotoniques, The Barcelona Institute of Science and Technology, Castelldefels, Spain.; Vaquero A; Chromatin Biology Laboratory, Josep Carreras Leukaemia Research Institute, Badalona, Spain.; Lopez de Munain A; Department of Neurology, Hospital Universitario Donostia, OSAKIDETZA-Department of Neurosciences, University of the Basque Cpuntry, San Sebastian, Spain.; Department of Neurosciences, Instituto Biodonostia, San Sebastián, Spain.; Center of Biomedical Research in Neurodegenerative Diseases (CIBERNED), CIBER, Ministry of Science, Innovation and University, Madrid, Spain.; Department of Medicine, School of Medicine, University of Deusto, Bilbao, Spain.; Pujol A; Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.; Center for Biomedical Research on Rare Diseases, (CIBERER U759) Ministry of Science Innovation and University, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101130839 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-9726 (Electronic) Linking ISSN: 14749718 NLM ISO Abbreviation: Aging Cell Subsets: MEDLINE

Andrade-Platas, D.; Martinez-Figueroa, M. G.; Rodriguez-Palmero, M.; Carratala, J. V.; Espadaler-Mazo, J.

European Journal of Pediatrics (EUR J PEDIATR), Dec2025; 184(12): 1-10. (10p)

Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Rodríguez-Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Pediatric Neurology Unit, Department of Pediatrics. Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.; Vélez-Santamaria V; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, Universitat de Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain.; Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Gereñu G; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, Hospital Universitario Donostia-OSAKIDETZA, 20014 Donostia/San Sebastián, Spain; CIBERNED, Carlos III Institute, Spanish Ministry of Economy & Competitiveness, 28031 Madrid, Spain; Department of Physiology, University of the Basque Country UPV-EHU, 48940 Leioa, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Basque Country, Spain.; Jiménez-Zúñiga A; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, Hospital Universitario Donostia-OSAKIDETZA, 20014 Donostia/San Sebastián, Spain.; Iñañez A; RUBAM, Department of Biological Chemistry, IQAC-CSIC, Madrid, Spain; Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD) ISCIII, 28029 Madrid, Spain.; Casas J; RUBAM, Department of Biological Chemistry, IQAC-CSIC, Madrid, Spain; Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD) ISCIII, 28029 Madrid, Spain.; Bech JJ; Proteomics Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Catalonia, Spain.; De La Torre C; Proteomics Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Catalonia, Spain.; Martínez JJ; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Fourcade S; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Iascone M; Laboratory of Genetic Medicine, ASST Papa Giovanni XXIII, Bergamo, Italy.; Tenconi R; Department of Pediatrics, Genetica Clinica, Università di Padova, Padova, Italy.; Meier K; Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Goettingen, Germany.; Diegmann S; Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Goettingen, Germany.; Lee RHC; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; Beland B; Department of Biological Sciences, International Islamic University (IIU), Islamabad, Pakistan.; Mir A; Department of Biological Sciences, International Islamic University (IIU), Islamabad, Pakistan.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.; Chung W; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.; Leal SM; Center for Statistical Genetics, Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.; Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA.; Öhman S; Kårkulla Joint Authority, Kirjala, Finland; Tampere University, Vaccine Research Center, Tampere, Finland; Turku Vaccine Research Clinic, Turku, Finland.; Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.; Granvik J; Wellbeing Services County of Central Ostrobothnia, Kokkola, Finland.; Reinson K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Kurvinen E; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Schwan A; Medical Healthcare Centre Dr. Eberhard und Partner Dortmund, Medical Genetics, Dortmund, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kalayci T; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Sharifi S; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Houlden H; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; López de Munaín A; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, Hospital Universitario Donostia-OSAKIDETZA, 20014 Donostia/San Sebastián, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Basque Country, Spain; Department of Neurosciences, University of the Basque Country UPV-EHU, 48940 Leioa, Spain.; Casasnovas C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, Universitat de Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain.; Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain. Electronic address: apujol@idibell.cat.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Singh, Ruma G.; Aoki, Fumiki; Seuma, Maria Rodriguez-Palmero; Aguilo, Meritxell; Washida, Motohisa; Espadaler-Mazo, Jordi; Al-Wahsh, Huda; Crowley, David C.; Guthrie, Najla; Evans, Malkanthi; Moulin, Marc; Lewis, Erin D.

Journal of Dietary Supplements. 22:549-570

Huguet, Gemma; Puig-Parnau, Irene; Serrano, Jose C. E.; Martin-Gari, Meritxell; Rodríguez-Palmero, María; Moreno-Muñoz, Jose Antonio; Tibau, Joan; Kádár, Elisabet

European Journal of Nutrition (EUR J NUTR), Sep2023; 62(6): 2463-2473. (11p)

Marta Sevilla-Porras; Esther Nieto-Molina; Zahara Medina; Alejandra Damián; Juan R. Tejedor; Carlos Ruiz-Arenas; Mario Cazalla; Rosario Carmona; Jorge Amigo; Ibai Goicoechea; Raúl Tonda; Gemma Bullich; Sergi Beltran; Noemí Toro-Barrios; Virginia Aquino; Emma Soengas-Gonda; Cinta Navarro-Moreno; Marcela Mena; June Corcuera; Verónica Martos-Gago; Míriam Álvarez-Barona; María Barreda-Sánchez; Cristina Silván; Jair Tenorio-Castaño; Carolina Alves; María I. Álvarez-Mora; Laia Rodríguez-Revenga; Irene Madrigal; María J. Ballesta-Martinez; Vanesa López-González; Belén Pérez; Montserrat Morales-Conejo; Irene Valenzuela; Marta Codina-Solà; Marta Alemany-Albert; Virginia Ballesteros-Cogollos; Raquel Rodríguez-López; Berta Almoguera; Isabel Lorda-Sánchez; Irene Lázaro-Rodríguez; Miguel A. Martín; Lidia Fernández-Caballero; Helena Gil-Peña; Noelia García-González; Marta Agúndez-Sarasola; Judith Armstrong; Loreto Martorell; Dídac Casas-Alba; Carmen Fons; Roser Urreizti; Antonio F. Martínez-Monseny; Leticia Pías-Peleteiro; Francisco Palau; Lexuri Gerrikabeitia; Nelmar V. Ortiz-Cabrera; Anna Duat-Rodríguez; Bárbara Fernández-Garoz; Laura López-Marín; Beatriz Bernardino-Cuesta; Elena Anton-Martin; María J. González-Gómez; Elena González-Alguacil; Carmen Gómez Lado; David Dacruz-Álvarez; Beatriz Sobrino; Víctor Martínez-Glez; Anna Ruiz; Carmen Manso-Bazús; Nino Spataro; Neus Baena; Juan Pablo Trujillo-Quintero; Nuria Capdevila; Anna Brunet-Vega; Eugenio Zapata-Aldana; Verónica A. Seidel; Raquel Yahyaoui; Ignacio Blanco; Elisabeth Castellanos; Montse Pauta; María del Mar Rovira; Barbara Masotto; Agustí Rodríguez-Palmero; Aurora Pujol; Agatha Schlüter; María Palomares-Bralo; María Á. Gómez-Cano; María Nieves-Moreno; Emi Rikeros-Orozco; Antonio Poyatos-Andujar; Inmaculada Medina-Martínez; Fernando Santos-Simarro; Damià Heine-Suñer; Susana R. Avella-Klaassen; Ángeles Perez-Granero; María Antonia Grimalt; Ignacio Arroyo-Carrera; Andrea Sariego-Jamardo; Ana I. Vega; José L. Fernández-Luna; Mireia Del Toro; Flora Sánchez-Jiménez; Juan M. Borreguero-León; Andrea Campo-Barasoain; Joaquín Dopazo; Mario F. Fraga; Feliciano Ramos; Jordi Rosell; Enrique Galán-Gomez; Salud Borrego; Luis Castaño; Francisco Barros; José M. Millán; Gemma Aznar-Laín; Encarna Guillén-Navarro; Carmen Ayuso; Ángel Carracedo; Pablo Lapunzina; Beatriz Morte; Luis A. Pérez-Jurado

Marta Perez; Eva Armengol; Antonio Del Casale; Ilenia Campedelli; Ana Aldea-Perona; Marta Pérez Otero; Maria Rodriguez-Palmero; Jordi Espadaler-Mazo; Pol Huedo

Microbiol Spectr

José López Castro; Silvia Diz-de Almeida; Manuel L. López Reboiro; Cristina Sardiña González; Javier Abellan; René Acosta-Isaac; Jose María Aguado; Carlos Aguilar; Sergio Aguilera-Albesa; Abdolah Ahmadi Sabbagh; Jorge Alba; Sergiu Albu; Karla A.M. Alcalá-Gallardo; Julia Alcoba-Florez; Sergio Alcolea Batres; Holmes Rafael Algarin-Lara; Virginia Almadana; Julia Almeida; Berta Almoguera; María R. Alonso; Nuria Alvarez; Rodolfo Alvarez-Sala Walther; Álvaro Andreu-Bernabeu; Maria Rosa Antonijoan; Eunate Arana-Arri; Carlos Aranda; Celso Arango; Carolina Araque; Nathalia K. Araujo; Izabel M.T. Araujo; Ana C. Arcanjo; Ana Arnaiz; Francisco Arnalich Fernández; María J. Arranz; José Ramon Arribas Lopez; Maria-Jesus Artiga; Yubelly Avello-Malaver; Carmen Ayuso; Ana Margarita Baldión; Belén Ballina Martín; Raúl C. Baptista-Rosas; Andrea Barranco-Díaz; María Barreda- Sánchez; Viviana Barrera-Penagos; Moncef Belhassen-Garcia; Enrique Bernal; David Bernal-Bello; Joao F. Bezerra; Marcos A.C. Bezerra; Natalia Blanca-López; Rafael Blancas; Lucía Boix-Palop; Alberto Borobia; Elsa Bravo; María Brion; Óscar Brochado-Kith; Ramón Brugada; Matilde Bustos; Alfonso Cabello; Juan J. Caceres-Agra; Esther Calbo; Enrique J. Calderón; Shirley Camacho; Marcela C. Campos; Cristina Carbonell; Servando Cardona-Huerta; Antonio Augusto F. Carioca; Maria Sanchez Carpintero; Carlos Carpio Segura; Thássia M.T. Carratto; José Antonio Carrillo-Avila; Maria C.C. Carvalho; Carlos Casasnovas; Luis Castano; Carlos F. Castaño; Jose E. Castelao; Aranzazu Castellano Candalija; María A. Castillo; Yolanda Cañadas; Francisco C. Ceballos; Jessica G. Chaux; Walter G. Chaves- Santiago; Sylena Chiquillo-Gómez; Marco A. Cid-Lopez; Oscar Cienfuegos-Jimenez; Rosa Conde-Vicente; M. Lourdes Cordero-Lorenzana; Dolores Corella; Almudena Corrales; Jose L. Cortes-Sanchez; Marta Corton; Tatiana X. Costa; Raquel Cruz; Marina S. Cruz; Luisa Cuesta; Gabriela C.R. Cunha; David Dalmau; Raquel C.S. Dantas-Komatsu; M. Teresa Darnaude; Alba De Martino-Rodríguez; Juan De la Cruz Troca; Juan Delgado-Cuesta; Aranzazu Diaz de Bustamante; Covadonga M. Diaz-Caneja; Beatriz Dietl; Elena Domínguez-Garrido; Alice M. Duarte; Anderson Díaz-Pérez; Jose Echave-Sustaeta; Rocío Eiros; César O. Enciso-Olivera; Gabriela Escudero; Pedro Pablo España; Gladys Mercedes Estigarribia Sanabria; María Carmen Fariñas; Marianne R. Fernandes; Lidia Fernandez-Caballero; María J. 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Frontiers in Medicine, Vol 12 (2026)

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Nature Genetics. :1-15

Rodriguez-Palmero, A; Boerrigter, MM; Gomez-Andres, D; Aldinger, KA; Marcos-Alcalde, I; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V

GENETICS IN MEDICINE. 23(5):888-899

Eulàlia Turón-Viñas; Susana Boronat; Ignasi Gich; Verónica González Álvarez; Montserrat García-Puig; Maria Camós Carreras; Agustí Rodriguez-Palmero; Ana Felipe-Rucián; Gemma Aznar-Laín; Xavier Jiménez-Fàbrega; Natalia Pérez de la Ossa; Mireia Álvarez-Molinero; Irene Barceló; Sonia Brió; Dolors Casellas-Vidal; Elisabeth Coca-Fernández; Laura Costa-Comellas; Verónica Delgadillo-Chilabert; Asunción Díaz-Gómez; Laura Díaz-Simal; Lucía Dougherty-de Miguel; Conxita Escofet; Elisabeth Esteban; David Gómez-Andrés; Xoan González-Rioja; Cristina Molina-Anguita; Laura Monlleó-Neila; Fernando Paredes-Carmona; Montserrat Pujol; Miquel Raspall-Chaure; Luis Renter-Valdovinos; Júlia Sala-Colomina; Mireia Sensarrich; Silvia Solà; Angels Soto; Carme Torrents; Anna Turon-Viñas; Marc Turon; Jose Maria Valle-T-Figueras

Stroke
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)

Diana M. Andrade-Platas; Marta Gloria Martinez-Figueroa; Maria Rodriguez-Palmero; Jose Vicente Carratalá; Jordi Espadaler-Mazo

Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany.; Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA.; Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany.; Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Mazlan RAB; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia.; Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany.; Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany.; Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy.; Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK.; Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.; Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.; Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland.; Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK.; Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany.; Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia.; Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA.; Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany.; Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil.; Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany.; Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana.; Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy.; Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt.; Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico.; Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German.; Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates.; Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico.; Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035.; Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035.; Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia.; Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.; Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain.; Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK.; Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.; Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia.; Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia.; Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey.; Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.; Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.; Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel.; Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain.; Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain.; Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.; Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China.; Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany.; Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany.; Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany.; Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France.; Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium.; Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada.; Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria.; Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.; Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye.; Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye.; Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye.; Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye.; Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany.; Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany.; Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany.; Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium.; Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA.; Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany.; Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK.; Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA.; Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Koehorst E; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Odria R; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Capó J; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Núñez-Manchón J; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Arbex A; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain.; Almendrote M; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain.; Linares-Pardo I; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Natera-de Benito D; Neuromuscular Unit, Neuropediatric Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, L'Hospitalet de Llobregat, 08950 Barcelona, Spain.; Saez V; Neuromuscular Unit, Neuropediatric Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, L'Hospitalet de Llobregat, 08950 Barcelona, Spain.; Nascimento A; Neuromuscular Unit, Neuropediatric Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, L'Hospitalet de Llobregat, 08950 Barcelona, Spain.; Ortez C; Neuromuscular Unit, Neuropediatric Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, L'Hospitalet de Llobregat, 08950 Barcelona, Spain.; Rubio MÁ; Neuromuscular Unit, Department of Neurology, Hospital del Mar, 08003 Barcelona, Spain.; Díaz-Manera J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.; Alonso-Pérez J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.; Lucente G; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain.; Rodriguez-Palmero A; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Ramos-Fransi A; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain.; Martínez-Piñeiro A; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Neuromuscular Pathology Unit, Neurology Service, Neuroscience Department, Hospital Universitari Germans Trias i Pujol, 08916 Badalona, Spain.; Nogales-Gadea G; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.; Suelves M; Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; de Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido; De Wachter, Matthias; Koudijs, Suzanna V; Van Esch, Hilde

Epilepsia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S V, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2023, 'Developmental epileptic encephalopathy in DLG4-related synaptopathy', Epilepsia. https://doi.org/10.1111/epi.17876
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S M, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D, Szczaluba, K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2024, ' Developmental epileptic encephalopathy in DLG4-related synaptopathy ', Epilepsia, vol. 65, no. 4, pp. 1029-1045 . https://doi.org/10.1111/epi.17876

Elkhateeb, Nour ; Crookes, Renarta ; Spiller, Michael ; Pavinato, Lisa ; Palermo, Flavia ; Brusco, Alfredo ; Parker, Michael ; Park, Soo-Mi ; Mendes, Ariana Costa ; Saraiva, Jorge M. ; Hammer, Trine Bjørg ; Nazaryan-Petersen, Lusine ; Barakat, Tahsin Stefan ; Wilke, Martina ; Bhoj, Elizabeth ; Ahrens-Nicklas, Rebecca C. ; Li, Dong ; Nomakuchi, Tomoki ; Brilstra, Eva H. ; Hunt, David ; Johnson, Diana ; Mansour, Sahar ; Oprych, Kathryn ; Mehta, Sarju G. ; Platzer, Konrad ; Schnabel, Franziska ; Kiep, Henriette ; Faust, Helene ; Prinzing, Gillian ; Wiltrout, Kimberly ; Radley, Jessica A. ; Serrano Russi, Alvaro H. ; Atallah, Isis ; Campos-Xavier, Belinda ; Amor, David J. ; Morgan, Angela T. ; Fagerberg, Christina ; Andersen, Ulla A. ; Andersen, Charlotte B. ; Bijlsma, Emilia K. ; Bird, Lynne M. ; Mullegama, Sureni V. ; Green, Andrew ; Isidor, Bertrand ; Cogné, Benjamin ; Kenny, Janna ; Lynch, Sally A. ; Quin, Shauna ; Low, Karen ; Herget, Theresia ; Kortüm, Fanny ; Levy, Rebecca J. ; Morrison, Jennifer L. ; Wheeler, Patricia G. ; Narumanch, TaraChandra ; Peron, Kristina ; Matthews, Nicole ; Uhlman, Jillian ; Bell, Lauren ; Pang, Lewis ; Scurr, Ingrid ; Belles, Rebecca S. ; Salbert, Bonnie Anne ; Schaefer, Gerald Bradley ; Green, Sarah ; Ros, Andrea ; Rodríguez-Palmero, Agustí ; Višnjar, Tanja ; Writzl, Karin ; Vasudevan, Pradeep C. ; Balasubramanian, Meena

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