부산대학교 도서관

Bober, S L; Li, Q; Ros-Pardo, D; Faultless, T; Marcos-Alcalde, I; Gomez-Puertas, P; Gollob, M H

Europace

Gverdtsiteli S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Hermann X; Resource Center for Rare Oral Diseases, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Andersen NB; The Epilepsy Clinic, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Ros-Pardo D; Molecular Modeling Group, Centro de Biologia Molecular Severo Ochoa (CBM, CSIC-UAM), E-28049 Madrid, Spain.; Marcos-Alcalde I; Molecular Modeling Group, Centro de Biologia Molecular Severo Ochoa (CBM, CSIC-UAM), E-28049 Madrid, Spain.; Gómez-Puertas P; Molecular Modeling Group, Centro de Biologia Molecular Severo Ochoa (CBM, CSIC-UAM), E-28049 Madrid, Spain.; Brook AH; Adelaide Dental School, The University of Adelaide, Adelaide, SA 5000, Australia.; Silahtaroglu A; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.; Tümer Z; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Bober, Sara L.; Li, Qiuju; Ros-Pardo, David; Faultless, Trent; Marcos-Alcalde, Inigo; Gomez-Puertas, Paulino; Gollob, Michael H.

CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY; NOV 2025, 18 11, pe013899 12p.

Hildonen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ferilli M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Cappelletti C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Al Alam C; Department of Pediatric Neurology, American center for Psychiatry and Neurology, Abu Dhabi, UAE.; Department of Pediatric Neurology, Haykel Hospital, El Koura, Lebanon.; Amor DJ; Department of Paediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.; Barakat TS; Deparment of Clinical Genetics, Erasmus MC, 3000CA, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, University Medical Center, 3000CA, Rotterdam, Netherlands.; Benoit V; IPG, Centre for Human Genetics, Charleroi, Belgium.; Birk OS; Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000, Ghent, Belgium.; Cazurro-Gutiérrez A; Paediatric Neurology Research Group, Vall d'Hebron Institut de Recerca, 08035, Barcelona, Spain.; Universitat Autònoma de Barcelona, 08193, Barcelona, Spain.; De Wachter M; Department of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Doco-Fenzy M; SFR CAP SANTE, Service de génétique CHU Reims, 51092, Reims, France.; CHU de Nantes, service de génétique médicale, 44000, Nantes, France.; Gómez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), E-28049, Madrid, Spain.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center Leipzig, 04103, Leipzig, Germany.; Kaiyrzhanov R; Department of Neuromuscular Disorders, University College London Institute of Neurology, WC1N 3BG, London, UK.; Kameyama S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 236-0004, Yokohama, Japan.; Keren B; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, 75013, Paris, France.; Kresge C; Rutgers New Jersey Medical School, Newark, NJ, USA.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center Leipzig, 04103, Leipzig, Germany.; Lederer D; IPG, Centre for Human Genetics, Charleroi, Belgium.; Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), E-28049, Madrid, Spain.; Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, WC1N 3BG, London, UK.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 236-0004, Yokohama, Japan.; Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 236-0004, Yokohama, Japan.; Moey LH; Department of Clinical Genetics, Penang Hospital, 10450, Georgetown, Malaysia.; Morgan A; Speech and Language, Murdoch Children's Research Institute, 3052, Melbourne, Australia.; Department of Audiology and Speech Pathology, 3052, Melbourne, Australia.; Munell F; Paediatric Neurology Research Group, Vall d'Hebron Institut de Recerca, 08035, Barcelona, Spain.; Universitat Autònoma de Barcelona, 08193, Barcelona, Spain.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center Leipzig, 04103, Leipzig, Germany.; Pletcher BA; Rutgers New Jersey Medical School, Newark, NJ, USA.; Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), E-28049, Madrid, Spain.; Rumping L; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, 2650, Edegem, Belgium.; Szakszon K; University of Debrecen, Faculty of Medicine, Clinical Center, Institute of Paediatrics, 4032, Debrecen, Hungary.; Van Schil K; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, 2650, Edegem, Belgium.; Verdura E; Paediatric Neurology Research Group, Vall d'Hebron Institut de Recerca, 08035, Barcelona, Spain.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, B15 2TG, Birmingham, UK.; Wassmer E; Neurology, Birmingham Women's and Children's Hospital, B4 6 NH, Birmingham, UK.; Institute of Health and Neurodevelopment, Aston University, B4 7ET, Birmingham, UK.; Zamani M; Center for Genomics and Systems Biology, Department of Biology, New York University, New York, NY, 10003, USA.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Tümer Z; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, 2100, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy.; Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.; Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA.; Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany.; Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France.; Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France.; Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France.; Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany.; Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA.; Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium.; Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark.; Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Arnedo, Maria; Ros-Pardo, David; Puisac, Beatriz; Lucia-Campos, Cristina; Gil-Salvador, Marta; Latorre-Pellicer, Ana; Marcos-Alcalde, Inigo; Pie, Juan; Gomez-Puertas, Paulino

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; AUG 26 2025, 26 17, p8266 20p.

Colomo S; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; Ros-Pardo D; Grupo de modelado molecular, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.; Oltra SS; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; Laboratorio de Investigación Traslacional, Fundación MD Anderson Internacional (FMDA), Madrid, Spain.; Gomez-Puertas P; Grupo de modelado molecular, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.; Sarrio D; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; Moreno-Bueno G; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; Laboratorio de Investigación Traslacional, Fundación MD Anderson Internacional (FMDA), Madrid, Spain.

Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101137841 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-4005 (Electronic) Linking ISSN: 15514005 NLM ISO Abbreviation: Cell Cycle Subsets: MEDLINE

Campos-Díaz A; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain.; Morejón-García P; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain.; Monte-Serrano E; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain.; Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28040, Madrid, Spain.; Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28040, Madrid, Spain.; Gómez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28040, Madrid, Spain.; Lazo PA; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain. pedro.lazo@csic.es.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain. pedro.lazo@csic.es.

Publisher: Springer International Country of Publication: Germany NLM ID: 9504370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1440 (Electronic) Linking ISSN: 09462716 NLM ISO Abbreviation: J Mol Med (Berl) Subsets: MEDLINE

Oltra, Sara S.; Colomo, Sara; Sin, Laura; Perez-Lopez, Maria; Lazaro, Sara; Molina-Crespo, Angela; Choi, Kyoung-Han; Ros-Pardo, David; Martinez, Lidia; Morales, Saleta; Gonzalez-Paramos, Cristina; Orantes, Alba; Soriano, Mario; Hernandez, Alberto; Lluch, Ana; Rojo, Federico; Albanell, Joan; Gomez-Puertas, Paulino; Ko, Jae-Kyun; Sarrio, David; Moreno-Bueno, Gema

CELL DEATH AND DIFFERENTIATION; MAR 11 2023, 16p.

Christensen MB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Levy AM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Mohammadi NA; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Kaiyrzhanov R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Al Alam C; Pediatric Neurology department, American center for Psychiatry and Neurology, Al Ain, United Arab Emirates.; Pediatric Neurology department, Haykel Hospital, El Koura, Lebanon.; Alesi V; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Benoit V; IPG, Centre for Human Genetics, Charleroi, Belgium.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Boßelmann CM; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Buratti J; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.; De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; D'haenens E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Doco-Fenzy M; SFR CAP SANTE, HMB2 CHU Reims, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France.; Geßner M; KfH-Board of Trustees for Dialysis and Kidney Transplantation (KfH-Kuratorium für Dialyse und Nierentransplantation e.V.), Neu Isenburg, Germany.; Gobert C; Neuropediatric department, Centre Hospitalier Neurologique William Lennox, Ottignies, Belgium.; Guliyeva U; Department of Pediatrics, MediClub Hospital, Baku, Azerbaijan.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; MVZ Humangenetik und Molekularpathologie GmbH, Rostock, Germany.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hoffmann U; St. Franziskus-Hospital, Münster, Germany.; Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany.; Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Keren B; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.; Kresge C; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.; Kumps C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Lederer D; IPG, Centre for Human Genetics, Charleroi, Belgium.; Lermine A; LBBMS SeqOIA, AP-HP, Paris, France.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Vahidi Mehrjardi MY; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Moudi M; Department of Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Oostra AJ; Neuropediatric department, Ghent University Hospital, Ghent, Belgium.; Centre for Developmental disorders, University Hospital Ghent, Ghent, Belgium.; Pletcher BA; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.; Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.; Samarasekera S; Neurology Department, Queen Elizabeth Hospital, Birmingham, UK.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Van Schil K; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Wassmer E; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK.; Institute of Health and Neurodevelopment, Aston University, Birmingham, UK.; Winkelmann J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Arevalo-Romero, Jenny Andrea; Lopez-Cantillo, Gina; Moreno-Jimenez, Sara; Marcos-Alcalde, Inigo; Ros-Pardo, David; Camacho, Bernardo Armando; Gomez-Puertas, Paulino; Ramirez-Segura, Cesar A.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; OCT 2024, 25 19, p10802 16p.

Ros-Pardo, David; Gomez-Puertas, Paulino; Marcos-Alcalde, Inigo

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES; SEP 2024, 276 p133822 9p.

Lucia-Campos C; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.; Valenzuela I; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.; Ros-Pardo D; Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Molecular Modeling Group, E-28049 Madrid, Spain.; Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.; Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.; Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.; Castells N; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Plaja A; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Tenes A; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Cuscó I; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Department of Genetics, Hospital Sant Pau, E-08041 Barcelona, Spain.; Trujillano L; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Ramos FJ; Unit of Clinical Genetics, Department of Paediatrics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Gómez-Puertas P; Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Molecular Modeling Group, E-28049 Madrid, Spain.; Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Ros-Pardo, David; Gomez-Puertas, Paulino; Marcos-Alcalde, Inigo

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; JAN 2024, 25 2, p1280 17p.

Furia, F.; Levy, A. M. Bust; Quemener, S.; Brancati, F.; Potratz, C.; Bartos, M.; Dean, J.; Chong, J.; Chung, W.; Tao, A.; Hueffmeier, U.; Kaindl, A.; Zweier, C.; Kraus, C.; Reis, A.; Fleischer, J.; Miel, T.; Legius, E.; Bijlsma, E.; Shen, J.; Egense, A.; Thiffault, I.; Zhou, J. J.; Tanguy, N.; Sedighzadeh, S.; Goel, H.; Gomez-Puertas, P.; Marcos-Alcalde, I.; Ros-Pardo, D.; Uguen, K.; O'Connor, M.; Schonewolf-Greulich, B.; Pastinen, T.; Planes, M.; Rouault, K.; Gardella, E.; Moller, R. S.; Tumer, Z. A.

EPILEPSIA; NOV 2023, 64 p382-p383, 2p. Supplement: 2

Reinson, Karit; Oja, Kaisa Teele; Ilisson, Mihkel; Seaby, Eleanor G.; Wojcik, Monica H.; O'Donnell-Luria, Anne; Wittmann, Bryan M.; Kennedy, Adam; DeBalsi, Karen; Zweier, Christiane; Vasileiou, Georgia; Alkhawaja, Issam A.; Wirth, Thomas; Syrbe, Steffen; Alyamani, Suad; Alkuraya, Fowzan; Ros-Pardo, David; Marcos-Alcalde, Inigo; Gomez-Puertas, Paulino; Su, Ke; Fan, Shaohua; Ma, Yu; Wang, Yi; Vidailhet, Marie; Renieri, Alessandra; Pinto, Anna Maria; Almadhoun, Farah; Petersen, Andrea; Magnussen, Kari; Bodamer, Olaf; Fleischer, Nicole; Begtrup, Amber; Pajusalu, Sander; Ounap, Katrin

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1053-p1054, 2p. Supplement: 2

Furia, Francesca; Levy, Amanda; Barakat, Stefan; Bartos, Meghan; Bijlsma, Emilia K.; Brancati, Francesco; Chong, Jessica X.; Chung, Wendy; Dean, Joy; Goel, Himanshu; Egense, Alena; Fleischer, Julie; Gomez-Puertas, Paulino; Hueffmeier, Ulrike; Kaindl, Angela; Legius, Eric; Marcos-Alcalde, Inigo; Moeller, Rikke Steensbjerre; O'Connor, Mary; Planes, Marc; Potratz, Cornelia; Quemener, Sylvia; Ros-Pardo, David; Rouault, Karen; Schoenewolf-greulich, Bitten; Schot, Rachel; Shen, Joseph; Tanguy, Niclass; Theunis, Miel; Thiffault, Isabelle; Uguen, Kevin; Zweier, Christiane; Gardella, Elena; Tumer, Zeynep

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1448-p1448, 1p. Supplement: 2