Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Krapels IPC"'
Autor:
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada-Terradellas J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR, Nantes Referral Center for inherited cardiac arrhythmia
Publikováno v:
GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e87c9928a8521edcd91c04ed927a7b68
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
https://openaccess.sgul.ac.uk/id/eprint/112371/3/s41436-020-00946-5.pdf
Autor:
Verstraeten, A, Perik, MHAM, Baranowska, AA, Meester, JAN, Van Den Heuvel, L, Bastianen, J, Kempers, M, Krapels, IPC, Maas, A, Rideout, A, Vandersteen, A, Sobey, G, JOHNSON, D, Fransen, E, Ghali, N, Webb, T, Al-Hussaini, A, de Leeuw, P, Delmotte, P, Lopez-Sublet, M, Pappaccogli, M, Sprynger, M, Toubiana, L, European/International Fibromuscular Dysplasia Registry and Initiative, (FEIRI), Van Laer, L, Van Dijk, FS, Vikkula, M, Samani, NJ, Persu, A, Adlam, D, Loeys, B, Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative, (FEIRI)
Publikováno v:
Circulation
Circulation, 2020, 142, pp.1021-1024
Circulation, 2020, 142, pp.1021-1024
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ec0a6139ab8fdbe9d5fd64c7a503eb35
https://hal.archives-ouvertes.fr/hal-03467687
https://hal.archives-ouvertes.fr/hal-03467687
Autor:
Krapels, IPC, van Rooij, IALM, Ocké, MC, West, CE, van der Horst, CMAM, Steegers- Theunissen, RPM
Publikováno v:
Journal of Nutrition, 134, 3106-3113. American Society for Nutrition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::119e1aa40f55313e50f8b302d9c2c45b
https://pure.eur.nl/en/publications/6ef70d97-bf8f-479e-bc9d-eaaed9ff7c50
https://pure.eur.nl/en/publications/6ef70d97-bf8f-479e-bc9d-eaaed9ff7c50
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Poke G; Genetic Health Service New Zealand, Wellington, New Zealand., Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel., Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA., Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy., Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy., Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA., Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA., Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan., Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, German., Treu AB; Epilepsy Center Kleinwachau, Radeberg, Germany., Quilichini J; Service de Médecine Génomique des maladies de système et d'organe, APHP, Centre Université Paris Cité, Paris, France., Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France., Chatron N; Department of Genetics, Lyon University Hospital, Lyon, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Januel L; Department of Genetics, Lyon University Hospital, Lyon, France., Rougeot C; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Rousseau J; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Myers KA; Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Akhtar A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany. Electronic address: akhtar@ie-freiburg.mpg.de., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1330-1351. Date of Electronic Publication: 2024 May 29.
Autor:
van den Bersselaar LM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Bekkers JA; Department of Cardiothoracic Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands., Kempers M; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Baars M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Overwater E; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Rompen E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Dulfer E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Loeys BL; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verhagen HJM; Department of Vascular Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Maugeri A; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Roos-Hesselink JW; Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101024. Date of Electronic Publication: 2023 Dec 11.
Autor:
Henkens MTHM; Department of Cardiology, Maastricht University Medical Center, Maastricht, the Netherlands; Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands; Netherlands Heart Institute (NLHI), Utrecht, the Netherlands., Raafs AG; Department of Cardiology, Maastricht University Medical Center, Maastricht, the Netherlands; Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands., Vanloon T; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Maastricht University, Maastricht, the Netherlands., Vos JL; Department of Cardiology, Radboud University Medical Center, Nijmegen, the Netherlands., Vandenwijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW Institute for Developmental Biology and Cancer, Maastricht University, Maastricht, the Netherlands; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Knackstedt C; Department of Cardiology, Maastricht University Medical Center, Maastricht, the Netherlands; Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands., Gerretsen S; Department of Radiology and Nuclear Medicine, Cardiovascular research Institute Maastricht (CARIM), Maastricht University Medical Centre, Maastricht, the Netherlands., Hazebroek MR; Department of Cardiology, Maastricht University Medical Center, Maastricht, the Netherlands., Vernooy K; Department of Cardiology, Maastricht University Medical Center, Maastricht, the Netherlands; Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands., Nijveldt R; Department of Cardiology, Radboud University Medical Center, Nijmegen, the Netherlands., Lumens J; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Maastricht University, Maastricht, the Netherlands., Verdonschot JAJ; Centre for Heart Failure Research, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address: job.verdonschot@mumc.nl.
Publikováno v:
Journal of cardiac failure [J Card Fail] 2024 Jan; Vol. 30 (1), pp. 51-60. Date of Electronic Publication: 2023 May 23.
Autor:
Verheul LM; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., van der Ree MH; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Heart Failure and Arrhythmias, Amsterdam, Cardiovascular Sciences, Amsterdam, The Netherlands., Groeneveld SA; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Mulder BA; Department of Cardiology, University Medical Center Groningen, Groningen, The Netherlands., Christiaans I; Department of Human Genetics, University Medical Center Groningen, Groningen, The Netherlands., Kapel GFL; Department of Cardiology, Medisch Spectrum Twente, Enschede, The Netherlands., Alings M; Department of Cardiology, Amphia Hospital, Breda, The Netherlands., Bootsma M; Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Balt JC; Department of Cardiology, St.Antonius Hospital, Nieuwegein, The Netherlands., Yap SC; Department of Cardiology, Erasmus MC, Rotterdam, The Netherlands., Krapels IPC; Department of Human Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Ter Bekke RMA; Department of Cardiology, Maastricht University Medical Center+, Maastricht, The Netherlands., Volders PGA; Department of Cardiology, Maastricht University Medical Center+, Maastricht, The Netherlands., van der Crabben SN; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Postema PG; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Heart Failure and Arrhythmias, Amsterdam, Cardiovascular Sciences, Amsterdam, The Netherlands., Wilde AAM; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Heart Failure and Arrhythmias, Amsterdam, Cardiovascular Sciences, Amsterdam, The Netherlands., Dooijes D; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Baas AF; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hassink RJ; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.
Publikováno v:
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [Europace] 2023 Nov 02; Vol. 25 (11).
Autor:
Stroeks SLVM; Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.; Centre for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands., Hellebrekers D; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Claes GRF; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Krapels IPC; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Henkens MHTM; Department of Pathology, Maastricht University Medical Center, Maastricht, The Netherlands.; Netherlands Heart Institute (NLHI), Utrecht, The Netherlands., Sikking M; Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands., Vanhoutte EK; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Helderman-van den Enden A; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Brunner HG; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW Institute for Developmental Biology and Cancer, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Verdonschot JAJ; Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands. job.verdonschot@mumc.nl.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, (ERN GUARD-Heart), Amsterdam, The Netherlands. job.verdonschot@mumc.nl.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. job.verdonschot@mumc.nl.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jul; Vol. 31 (7), pp. 776-783. Date of Electronic Publication: 2023 May 17.