부산대학교 도서관

Foz Felipe D; Pediatrics Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Casas-Alba D; Department of Medical Genetics, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Sadok SH; Department of Medical Genetics, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Toral Fernández M; Pediatrics Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Vega-Hanna L; Department of Genetics, Hospital Santa Creu i Sant Pau, 08950 Barcelona, Spain.; Plaza L; Pediatrics Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Vicente Villa A; Department of Dermatology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Armstrong J; Genomic Unit, Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain.; Guillén-Navarro E; Department of Medical Genetics, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain.; Martínez-Monseny AF; Department of Medical Genetics, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, 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

Alarcón-Pérez CE; Fundació de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain.; Ivars M; Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain.; Lavarino C; Department of Molecular Oncology, Hospital Sant Joan de Déu, Barcelona, Spain.; Paco S; Department of Molecular Oncology, Hospital Sant Joan de Déu, Barcelona, Spain.; Martínez-Monseny A; Department of Medical Genetics, Hospital Sant Joan de Déu, Barcelona, Spain.; Baselga-Torres E; Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE

Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Costa-Roger M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Cuscó I; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Fernandez-Alvarez P; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Cueto-González A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Lasa-Aranzasti A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Masotto B; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Abulí A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Codina-Solà M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Del Campo M; Department of Clinical Pediatrics, University of California, San Diego, California, USA.; Ruiz Moreno JA; Department of Pediatrics, Hospital Costa del Sol, Marbella, Málaga, Spain.; Pardo Domínguez C; Department of Pediatrics, Hospital Costa del Sol, Marbella, Málaga, Spain.; Palma Milla C; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.; Pérez de la Fuente R; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.; Quesada-Espinosa JF; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.; Núñez-Enamorado N; Departamento de Neurología pediátrica, Hospital Universitario 12 de Octubre, Madrid, Spain.; Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Vizcaya, Spain.; Ballesta-Martínez MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clinico Universitario Virgen de la Arrixaca, Murcia, Spain.; Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain.; Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain.; Trujillo-Quintero JP; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, Palma de Mallorca, Spain.; Rosello M; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Orellana C; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Martinez F; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.; Martinez-Monseny AF; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Casas-Alba D; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; Serrano M; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Palomares-Bralo M; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.; Rikeros-Orozco E; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.; Gómez-Cano MÁ; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.; Tirado-Requero P; Neuropediatric Unit, University Hospital La Paz, Madrid, Spain.; Pié Juste J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Service of Paediatrics, University Hospital 'Lozano Blesa', University of Zaragoza Medical School, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; García-Arumí E; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

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

Daniel Greene; Koenraad De Wispelaere; Jon Lees; Marta Codina-Solà; Brynjar O. Jensson; Emma Hales; Andrea Katrinecz; Esther Nieto Molina; Sonia Pascoal; Rolph Pfundt; Rachel Schot; Marta Sevilla Porras; Frank Sleutels; Irene Valenzuela; Robin Wijngaard; Ignacio Arroyo Carrera; Giles Atton; Didac Casas-Alba; Deirdre Donnelly; Anna Duat Rodríguez; Bárbara Fernández Garoz; Nicola Foulds; Deyanira García-Navas Núñez; Elena González Alguacil; Joanna Jarvis; Sarina G. Kant; Irene Madrigal Bajo; Antonio F. Martinez-Monseny; Shane McKee; Nelmar Valentina Ortiz Cabrera; Laia Rodríguez-Revenga Bodi; Andrea Sariego Jamardo; Kari Stefansson; Patrick Sulem; Mohnish Suri; Clara Van Karnebeek; Pradeep Vasudevan; Ana Isabel Vega Pajares; Ángel Carracedo; Marc Engelen; Pablo Lapunzina; Natasha P. Morgan; Beatriz Morte; Patrick Rump; Kathy Stirrups; Eduardo F. Tizzano; Tahsin Stefan Barakat; Michael O’Donoghue; Luis Alberto Pérez-Jurado; Kathleen Freson; Andrew D. Mumford; Ernest Turro

Nat Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373

Salinas Chaparro, Diana; Muñoz Cabello, Patricia; Escribano Serrano, Gema; Torres López, Maite; Tizzano, Eduardo F.; Martinez-Monseny, Antonio F.; Santos-Simarro, Fernando

Anales de Pediatría (English Edition). 103(6)

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

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

Obesity, Fitness & Wellness Week. April 13, 2019, p1314

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

Pediatric Neurology. 155:8-17

Transl Pediatr

Daniel Brooks; Elizabeth Burke; Sukyeong Lee; Tanya N. Eble; Melanie O’Leary; Ikeoluwa Osei-Owusu; Heidi L. Rehm; Shweta U. Dhar; Lisa Emrick; David Bick; Michelle Nehrebecky; Ellen Macnamara; Dídac Casas-Alba; Judith Armstrong; Carolina Prat; Antonio F. Martínez-Monseny; Francesc Palau; Pengfei Liu; David Adams; Seema Lalani; Jill A. Rosenfeld; Lindsay C. Burrage

Human Genetics

Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Bertacchi M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.; Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Tocco C; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.; Kim US; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Kim's Eye Hospital, Seoul, South Korea.; Kruszewski AM; Department of Neurology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Avery RA; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA.; Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Ahn SJ; Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Pontikos N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Acheson J; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Davagnanam I; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Brain Repair & Rehabilitation, UCL Queen Square Institute of Neurology, London, UK.; Bowman R; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Kaliakatsos M; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Oluonye N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Wolfson Neurodisability Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Reddy MA; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Royal London Hospital, Barts Health NHS Trust, London, UK.; Clark E; Department of Neuroscience, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Rosser E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Amati-Bonneau P; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.; Genetics and Immuno-cell Therapy Team, Mohammed First University, Oujda, Morocco.; Charif M; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; National Center for Rare Diseases, Inherited Sensory Disorders, Gui de Chauliac Hospital, Montpellier, France.; Lenaers G; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; Meunier I; Institut des Neurosciences de Montpellier, INSERM INSERM U1051, Université de Montpellier, Montpellier, France.; Defoort S; Service d'exploration de la vision et neuro-ophtalmologie, CHRU de Lille, Lille, France.; Vincent-Delorme C; Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.; Robson AG; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Holder GE; Institute of Ophthalmology, University College London, London, UK.; Yong Loo Lin School of Medicine, Department of Ophthalmology, National University of Singapore, Singapore, Singapore.; Jeanjean L; Department of Ophthalmology, University Hospital of Nimes, Nimes, France.; Martinez-Monseny A; Genetic and Molecular Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Vidal-Santacana M; Department of Ophthalmology, Hospital Sant Joan de Déu, Barcelona, Spain.; Dominici C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France.; Gaggioli C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France.; Giordano N; Neuroscience Institute-CNR, Pisa, Italy.; Caleo M; Neuroscience Institute-CNR, Pisa, Italy.; Liu GT; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA.; Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Studer M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.; Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Salinas Chaparro, Diana ; Muñoz Cabello, Patricia ; Escribano Serrano, Gema ; Torres López, Maite ; Tizzano, Eduardo F. ; Martinez-Monseny, Antonio F. ; Santos-Simarro, Fernando

In Anales de Pediatria May 2025

Marina, Giralt Arnaiz; Antonio, F. Martínez Monseny; Amaya, Vela Desojo; Leandro, Soriano Guillén; Ana Lucía, Gómez Gila; Angel, Campos Barros

Ferri-Rufete, D ; Baleta-Riera, L ; Casas-Alba, D ; Balsells, S ; Llorca-Cardeñosa, A ; Barraso, M ; Català, J ; Casas, E ; Díaz, J ; Fresno, C ; Palau, F ; Martínez-Monseny, AF

In AJO International 3 October 2024 1(3)

Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.

In Human Genetics and Genomics Advances 18 July 2024 5(3)

Ferri-Rufete D; Pediatrics Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950, Spain. Electronic address: david.ferri@sjd.es.; López-González A; Pediatrics Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950, Spain. Electronic address: aitor.lopez@sjd.es.; Casas-Alba D; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950, Spain. Electronic address: didac.casas@sjd.es.; Cuadras D; Statistics Department, Fundació Sant Joan de Déu, Esplugues de Llobregat, 08950, Spain. Electronic address: danicuadras@gmail.com.; Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, 28029, Spain. Electronic address: francesc.palau@sjd.es.; Martínez-Monseny A; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950, Spain. Electronic address: antoniofederico.martinez@sjd.es.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.

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Niels Vos; Jack Reilly; Mariet W Elting; Philippe M Campeau; David Coman; Zornitza Stark; Tiong Yang Tan; David J Amor; Simran Kaur; Miya StJohn; Angela T Morgan; Benjamin A Kamien; Chirag Patel; Matthew L Tedder; Giuseppe Merla; Paolo Prontera; Marco Castori; Kai Muru; Felicity Collins; John Christodoulou; Janine Smith; Bruria Ben Zeev; Alessandra Murgia; Emanuela Leonardi; Natacha Esber; Antonio Martinez-Monseny; Didac Casas-Alba; Matthew Wallis; Marcel Mannens; Michael A Levy; Raissa Relator; Marielle Alders; Bekim Sadikovic

Vos, N, Reilly, J, Elting, M W, Campeau, P M, Coman, D, Stark, Z, Tan, T Y, Amor, D J, Kaur, S, StJohn, M, Morgan, A T, Kamien, B A, Patel, C, Tedder, M L, Merla, G, Prontera, P, Castori, M, Muru, K, Collins, F, Christodoulou, J, Smith, J, Zeev, B B, Murgia, A, Leonardi, E, Esber, N, Martinez-Monseny, A, Casas-Alba, D, Wallis, M, Mannens, M, Levy, M A, Relator, R, Alders, M & Sadikovic, B 2023, 'DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants', Epigenomics, vol. 15, no. 6, pp. 351-367. https://doi.org/10.2217/epi-2023-0079

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Diagnostics. January, 2025, Vol. 15 Issue 1