Resultats de la cerca - Mariëlle Alders

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  1. 1
    The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

    The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands per Mariëlle Alders

    Publicat 2003
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  2. 2
    A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension

    A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension per Bart G.P. Koot, Mariëlle Alders, Joanne Verheij, Ulrich Beuers, Jan M. Cobben

    Publicat 2015
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  3. 3
    Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

    Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance per Freyja H.M. van Lint, Olaf R.F. Mook, Mariëlle Alders, Hennie Bikker, Ronald H. Lekanne Deprez, Imke Christiaans

    Publicat 2019
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  4. 4
    Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

    Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome per John R. Giudicessi, Jamie D. Kapplinger, David J. Tester, Mariëlle Alders, Benjamin A. Salisbury, Arthur A.M. Wilde, Michael J. Ackerman

    Publicat 2012
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  5. 5
    Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

    Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS per Jet Bliek, Saskia M. Maas, Jan M. Ruijter, Raoul C. M. Hennekam, Mariëlle Alders, A. Westerveld, Marcel M.A.M. Mannens

    Publicat 2001
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  6. 6
    Genetic Testing for Long-QT Syndrome

    Genetic Testing for Long-QT Syndrome per Suraj Kapa, David J. Tester, Benjamin A. Salisbury, Carole Harris‐Kerr, Manish Pungliya, Mariëlle Alders, Arthur A.M. Wilde, Michael J. Ackerman

    Publicat 2009
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  7. 7
    Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.

    Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. per J.M.N. Hoovers, Linda M. Kalikin, Laura A. Johnson, Mariëlle Alders, B. Redeker, David Law, Jet Bliek, Marja Steenman, Mark Q. Benedict, J. Wiegant

    Publicat 1995
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  8. 8
    Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

    Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients per Nitash Zwaveling‐Soonawala, Mariëlle Alders, Aldo Jongejan, Lidija Kovačič, Floor A.M. Duijkers, Saskia M. Maas, Eric Fliers, A.S. Paul van Trotsenburg, Raoul C. M. Hennekam

    Publicat 2017
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  9. 9
    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene per Ronald H. Lekanne Deprez, J J Muurling-Vlietman, J Hruda, Marieke J.H. Baars, Liliane C. D. Wijnaendts, Irene Stolte‐Dijkstra, Mariëlle Alders, Johanna M. van Hagen

    Publicat 2006
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  10. 10
    Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics

    Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics per Lotte Kleinendorst, Ozair Abawi, H.J. van der Kamp, Mariëlle Alders, Hanne Meijers‐Heijboer, Elisabeth F. C. van Rossum, Erica L T van den Akker, Mieke M. van Haelst

    Publicat 2019
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    Revisão
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  11. 11
    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes

    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes per Nynke Hofman, Hanno L. Tan, Mariëlle Alders, I. Kolder, Simone de Haij, Marcel M.A.M. Mannens, Maria Lombardi, Ronald H. Lekanne Deprez, Irene M. van Langen, Arthur A.M. Wilde

    Publicat 2013
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  12. 12
    Erratum: Guidelines for diagnostic next-generation sequencing

    Erratum: Guidelines for diagnostic next-generation sequencing per Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Publicat 2016
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    Errata/Corrigenda
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  13. 13
    Guidelines for diagnostic next-generation sequencing

    Guidelines for diagnostic next-generation sequencing per Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans, Marc Sturm, Marjan M. Weiss, Helger G. Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

    Publicat 2015
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  14. 14
    Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

    Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells per Jet Bliek, Mariëlle Alders, Saskia M. Maas, Roelof‐Jan Oostra, Deborah Mackay, K. Lip, Johnatan L Callaway, Alice S. Brooks, Sandra van ‘t Padje, A. Westerveld, N. J. Leschot, Marcel M.A.M. Mannens

    Publicat 2009
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  15. 15
    Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

    Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation per Mariëlle Alders, Tamara T. Koopmann, Imke Christiaans, Pieter G. Postema, Leander Beekman, Michael W.T. Tanck, Katja Zeppenfeld, Peter Loh, Karel T. Koch, Sophie Demolombe, Marcel M.A.M. Mannens, Connie R. Bezzina, Arthur A.M. Wilde

    Publicat 2009
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  16. 16
    Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

    Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis per Tessa van Dijk, Sacha Ferdinandusse, Jos P.N. Ruiter, Mariëlle Alders, Inge B. Mathijssen, Jillian S. Parboosingh, A. Micheil Innes, Hanne Meijers-Heijboer, Bwee Tien Poll‐The, François Bernier, Ronald J. A. Wanders, Ryan E. Lamont, Frank Baas

    Publicat 2018
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  17. 17
    Expanding Spectrum of Human <i>RYR2</i> -Related Disease

    Expanding Spectrum of Human <i>RYR2</i> -Related Disease per Zahurul A. Bhuiyan, Maarten P. van den Berg, J. Peter van Tintelen, Margreet Th.E. Bink‐Boelkens, Ans C.P. Wiesfeld, Mariëlle Alders, Alex V. Postma, Irene M. van Langen, Marcel M.A.M. Mannens, Arthur A.M. Wilde

    Publicat 2007
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  18. 18
    Characterization of <i>SEMA3A</i> -Encoded Semaphorin as a Naturally Occurring K <sub>v</sub> 4.3 Protein Inhibitor and its Contribution to Brugada Syndrome

    Characterization of <i>SEMA3A</i> -Encoded Semaphorin as a Naturally Occurring K <sub>v</sub> 4.3 Protein Inhibitor and its Contribution to Brugada Syndrome per Nicole J. Boczek, Dan Ye, Eric K. Johnson, Wei Wang, Lia Crotti, David J. Tester, Federica Dagradi, Yuka Mizusawa, Margherita Torchio, Mariëlle Alders, John R. Giudicessi, Arthur A.M. Wilde, Peter J. Schwartz, Jeanne M. Nerbonne, Michael J. Ackerman

    Publicat 2014
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  19. 19
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis per Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    Publicat 2016
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  20. 20
    A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

    A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome per Iliana A. Chatzispyrou, Mariëlle Alders, Sergio Guerrero‐Castillo, Rubén Zapata‐Pérez, Martin A. Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R. Waterham, Johannes N. Spelbrink, Johan Auwerx, Marcel M.A.M. Mannens, Riekelt H. Houtkooper, Astrid S. Plomp

    Publicat 2017
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