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Wyszukujesz frazę ""van der Smagt JJ"" wg kryterium: Autor


Wyświetlanie 1-13 z 13
Tytuł:
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Autorzy:
Hoorntje ET; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.; Netherlands Heart Institute, Utrecht, the Netherlands.
van Spaendonck-Zwarts KY; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Te Rijdt WP; Department of Cardiology, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Boven L; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Vink A; Department of Pathology, University Medical Centre Utrecht, Utrecht, the Netherlands.
van der Smagt JJ; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
Asselbergs FW; Department of Cardiology, Division Heart & Lungs, University Medical Centre Utrecht, Utrecht, the Netherlands.; Durrer Centre for Cardiovascular Research, Netherlands Heart Institute, Utrecht, the Netherlands.; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, UK.
van Wijngaarden J; Department of Cardiology, Deventer Hospital, Deventer, the Netherlands.
Hennekam EA; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
Pinto YM; Department of Cardiology, Academic Medical Centre, Amsterdam, the Netherlands.
Lekanne Deprez RH; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
Bootsma M; Department of Cardiology, Leiden University Medical Centre, Leiden, the Netherlands.
Regieli J; Department of Cardiology, Isala Clinics, Zwolle, the Netherlands.; Heart Clinic, Amsterdam, the Netherlands.
Hoedemaekers YM; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
van den Berg MP; Department of Cardiology, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
van Tintelen JP; Netherlands Heart Institute, Utrecht, the Netherlands.; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Pokaż więcej
Źródło:
European journal of heart failure [Eur J Heart Fail] 2018 Apr; Vol. 20 (4), pp. 803-806. Date of Electronic Publication: 2017 Oct 23.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Cardiomyopathy, Dilated/*genetics
Connectin/*genetics
DNA/*genetics
Cardiomyopathy, Dilated/metabolism ; Connectin/metabolism ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Pedigree
Raport
Tytuł:
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
Autorzy:
Engbers H; Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. />van der Smagt JJ
van 't Slot R
Vermeesch JR
Hochstenbach R
Poot M
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Jan; Vol. 17 (1), pp. 129-32. Date of Electronic Publication: 2008 Oct 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chromosomes, Human, Pair 4/*genetics
Diseases in Twins/*genetics
Face/*abnormalities
Receptor, Fibroblast Growth Factor, Type 5/*genetics
Wolf-Hirschhorn Syndrome/*genetics
Child, Preschool ; Chromosome Deletion ; Female ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Phenotype ; Polymorphism, Single Nucleotide ; Repressor Proteins/genetics
Czasopismo naukowe
Tytuł:
Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria.
Autorzy:
Cox MG; Department of Cardiology, University of Medical Center Utrecht, Utrecht, The Netherlands. />Nelen MR
Wilde AA
Wiesfeld AC
van der Smagt JJ
Loh P
Cramer MJ
Doevendans PA
van Tintelen JP
de Bakker JM
Hauer RN
Pokaż więcej
Źródło:
Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2008 Aug; Vol. 19 (8), pp. 775-81. Date of Electronic Publication: 2008 Mar 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Arrhythmogenic Right Ventricular Dysplasia/*complications
Arrhythmogenic Right Ventricular Dysplasia/*diagnosis
Electrocardiography/*methods
Tachycardia, Ventricular/*complications
Tachycardia, Ventricular/*diagnosis
Adult ; Female ; Humans ; Male ; Reproducibility of Results ; Sensitivity and Specificity
Czasopismo naukowe
    Wyświetlanie 1-13 z 13

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