Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Van Loon RLE"'
Autor:
Broly M; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France., Polevoda BV; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA., Awayda KM; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA., Tong N; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA., Lentini J; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA., Besnard T; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France., Deb W; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France., O'Rourke D; Department of Neurology, Children's Health Ireland at Temple Street, Dublin, D01 XD99, Ireland., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK., Almannai M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh 12231, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Shamseldin H; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Al-Tala S; Pediatrics Department, Armed Forces Hospital, Khamis Mushait 62413, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Leon A; Research & Innovation (R&I Genetics) Srl, Genetic Laboratory, 35127 Padua, Italy., van Loon RLE; Department of Genetics, University of Utrecht, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara 44121, Italy., Sanchini M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara 44121, Italy., Bigoni S; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara 44121, Italy., Ciorba A; ENT & Audiology Unit, Department of Neurosciences, University Hospital of Ferrara, 44124 Cona FE, Italy., van Bokhoven H; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 HR Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6525 HR Nijmegen, the Netherlands., Iqbal Z; Department of Neurology, Oslo University Hospital, 0188 Oslo, Norway., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman., Al-Murshedi F; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman., Ganesh A; Department of Ophthalmology, Pediatric Ophthalmology and Ocular Genetics Unit, Sultan Qaboos University Hospital, Muscat 123, Oman., Al-Mamari W; Department of Child Health, Sultan Qaboos University Hospital, Muscat 123, Oman., Lim SC; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Pais LS; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Brown N; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia., Riazuddin S; Laboratory of Molecular Genetics, Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Pakistan Institute of Medical Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Sector G-8/3, Islamabad, Pakistan., Bézieau S; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France., Fu D; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA., Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France., Cogné B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France. Electronic address: benjamin.cogne@chu-nantes.fr., O'Connell MR; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA. Electronic address: mitchell_oconnell@urmc.rochester.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Apr 07; Vol. 109 (4), pp. 587-600. Date of Electronic Publication: 2022 Feb 22.
Autor:
Restrepo-Cordoba MA; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands., Wahbi K; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris-Descartes, Sorbonne Paris Cité University, Paris, France., Florian AR; Division of Cardiovascular Imaging, Department of Cardiology I, University Hospital Muenster, Muenster, Germany., Jiménez-Jáimez J; Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain., Politano L; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy., Arad M; Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Climent-Paya V; Cardiology Department, University General Hospital of Alicante, Alicante, Spain. Institute of Health and Biomedical Research (ISABIAL), Alicante, Spain., Garcia-Alvarez A; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Institut Clinic Cardiovascular, IDIBAPS, Hospital Clínic, University of Barcelona, Barcelona, Spain., Hansen RB; Department of Cardiology, Odense University Hospital, Odense, Denmark., Larrañaga-Moreira JM; Inherited Cardiovascular Diseases Unit, Cardiology Service, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Biomédica de A Coruña (INIBIC), Universidade da Coruña, A Coruña, Spain., Kubanek M; Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic., Lopes LR; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands.; Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK., Ros A; Cardiogenetics Unit, Clinical Genetics Department, University Hospital Germans Trias i Pujol, Badalona, Spain., Jurcut R; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands.; Expert Center for Rare Cardiovascular Genetic Diseases, 3rd Cardiology Department, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu', Bucharest, Romania., Rasmussen TB; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark., Ruiz-Guerrero L; Department of Cardiology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain., Pribe-Wolferts R; Institute for Cardiomyopathies Heidelberg, University Hospital Heidelberg, Heidelberg, Germany., Palomino-Doza J; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Inherited cardiac diseases unit, Cardiology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, Madrid, Spain., Bilinska Z; Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, Warsaw, Poland., Rodríguez-Palomares JF; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Hospital Universitari Vall d'Hebron, Department of Cardiology, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Van Loon RLE; Department of Genetics, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands., Basurte Elorz MT; Heart Area, Complejo Hospitalario de Navarra, Pamplona, Spain., Quarta G; Cardiology Department, ASST Papa Giovanni XXIII, Bergamo, Italy., Robledo Iñarritu M; Hospital Universitario Araba - Txagorritxu, Vitoria, Spain., Verdonschot JAJ; Department of Cardiology and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Stojkovic T; Referral Center of Neuromuscular Diseases, Myology Institute, Pitié-Salpêtrière Hospital, Paris, France., Shomanova Z; Division of Cardiovascular Imaging, Department of Cardiology I, University Hospital Muenster, Muenster, Germany., Bermudez-Jimenez F; Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain., Palladino A; Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli, Naples, Italy., Freimark D; Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., García-Álvarez MI; Cardiology Department, University General Hospital of Alicante, Alicante, Spain. Institute of Health and Biomedical Research (ISABIAL), Alicante, Spain., Jorda P; Institut Clinic Cardiovascular, IDIBAPS, Hospital Clínic, University of Barcelona, Barcelona, Spain., Dominguez F; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands., Ochoa JP; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.; Cardiology Department, Health in Code, A Coruña, Spain., Girolami F; Department of Paediatric Cardiology, Meyer Children's Hospital, Florence, Italy., Brugada R; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitari Dr Josep Trueta, Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, Girona, Spain., Meder B; Institute for Cardiomyopathies Heidelberg, University Hospital Heidelberg, Heidelberg, Germany.; Stanford University School of Medicine, Department of Genetics, Stanford, CA, USA., Barriales-Villa R; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Inherited Cardiovascular Diseases Unit, Cardiology Service, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Biomédica de A Coruña (INIBIC), Universidade da Coruña, A Coruña, Spain., Mogensen J; Department of Cardiology, Odense University Hospital, Odense, Denmark., Laforêt P; APHP, Hôpital Raymond Poincaré, Centre de Référence des Maladies Neuromusculaires Nord-Est-Île de France, Garches, France., Yilmaz A; Division of Cardiovascular Imaging, Department of Cardiology I, University Hospital Muenster, Muenster, Germany., Elliott P; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands.; Barts Heart Centre, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, UK., Garcia-Pavia P; Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART), Amsterdam, The Netherlands.; Universidad Francisco de Vitoria (UFV), Pozuelo de Alarcon, Spain.; Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Publikováno v:
European journal of heart failure [Eur J Heart Fail] 2021 Aug; Vol. 23 (8), pp. 1276-1286. Date of Electronic Publication: 2021 Jun 09.
Autor:
Stegeman R; Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO BOX 85090, 3584 EA, Utrecht, The Netherlands. R.Stegeman@umcutrecht.nl.; Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO BOX 85090, 3584 EA, Utrecht, The Netherlands. R.Stegeman@umcutrecht.nl., Paauw ND; Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO BOX 85090, 3584 EA, Utrecht, The Netherlands., de Graaf R; Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO BOX 85090, 3584 EA, Utrecht, The Netherlands., van Loon RLE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Termote JUM; Department of Neonatology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO BOX 85090, 3584 EA, Utrecht, The Netherlands., Breur JMPJ; Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO BOX 85090, 3584 EA, Utrecht, The Netherlands.
Publikováno v:
Scientific reports [Sci Rep] 2021 May 19; Vol. 11 (1), pp. 10626. Date of Electronic Publication: 2021 May 19.
Autor:
Mulder BA; Department of Cardiology, Thoraxcenter, University of Groningen, University Medical Center Groningen, PO Box 30.001, RB Groningen, The Netherlands., Hoedemaekers YM; Department of Genetics, Thoraxcenter, University of Groningen, University Medical Center Groningen, PO Box 30.001, RB Groningen, The Netherlands., van den Berg MP; Department of Cardiology, Thoraxcenter, University of Groningen, University Medical Center Groningen, PO Box 30.001, RB Groningen, The Netherlands., van Loon RLE; Department of Genetics, University of Utrecht, University Medical Center Utrecht, PO Box 80125, TC Utrecht, The Netherlands., Wind AM; Department of Cardiology, University of Utrecht, Diakonessen Hospital, PO Box 80250, TG Utrecht, The Netherlands., Jongbloed JDH; Department of Genetics, Thoraxcenter, University of Groningen, University Medical Center Groningen, PO Box 30.001, RB Groningen, The Netherlands., Wiesfeld ACP; Department of Cardiology, Thoraxcenter, University of Groningen, University Medical Center Groningen, PO Box 30.001, RB Groningen, The Netherlands.
Publikováno v:
European heart journal. Case reports [Eur Heart J Case Rep] 2019 Jul 29; Vol. 3 (3), pp. ytz132. Date of Electronic Publication: 2019 Jul 29 (Print Publication: 2019).
Autor:
Bartelds B; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: b.bartelds@umcg.nl., van Loon RLE; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Mohaupt S; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Wijnberg H; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Dickinson MG; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Boersma B; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Takens J; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., van Albada M; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands., Berger RMF; Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
Publikováno v:
Chest [Chest] 2012 Mar; Vol. 141 (3), pp. 651-660. Date of Electronic Publication: 2011 Sep 22.