Arama Sonuçları - Marcel M.A.M. Mannens

Sonuçları Daraltın
  1. 1
    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 Yazar: Jet Bliek, Saskia M. Maas, Jan M. Ruijter, Raoul C. M. Hennekam, Mariëlle Alders, A. Westerveld, Marcel M.A.M. Mannens

    Baskı/Yayın Bilgisi 2001
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  2. 2
    The idiopathic preterm delivery methylation profile in umbilical cord blood DNA

    The idiopathic preterm delivery methylation profile in umbilical cord blood DNA Yazar: Febilla Fernando, Remco Keijser, Peter Henneman, Anne-Marie Van Der Kevie-Kersemaekers, Marcel M.A.M. Mannens, Joris van der Post, Gijs Afink, Carrie Ris‐Stalpers

    Baskı/Yayın Bilgisi 2015
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  3. 3
    Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

    Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation Yazar: Zahurul A. Bhuiyan, Tarek Momenah, Qiuming Gong, Ahmad S. Amin, Saleh Al Ghamdi, J. S. Carvalho, Tessa Homfray, Marcel M.A.M. Mannens, Zhengfeng Zhou, Arthur A.M. Wilde

    Baskı/Yayın Bilgisi 2008
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  4. 4
    Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

    Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia Yazar: Alex V. Postma, Isabelle Denjoy, Theo M. Hoorntje, Jean‐Marc Lupoglazoff, Antoine Da Costa, Pascale Sébillon, Marcel M.A.M. Mannens, Arthur A.M. Wilde, Pascale Guicheney

    Baskı/Yayın Bilgisi 2002
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  5. 5
    Clinical utility gene card for: Beckwith–Wiedemann Syndrome

    Clinical utility gene card for: Beckwith–Wiedemann Syndrome Yazar: Thomas Eggermann, Elizabeth M. Algar, Pablo Lapunzina, Deborah Mackay, Eamonn R. Maher, Marcel M.A.M. Mannens, Irène Netchine, Dirk Prawitt, Andrea Riccio, I. Karen Temple, Rosanna Weksberg

    Baskı/Yayın Bilgisi 2013
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  6. 6
    Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?

    Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Yazar: Nynke Hofman, A. A. M. Wilde, Stefan Kääb, Irene M. van Langen, Michael W.T. Tanck, Marcel M.A.M. Mannens, Martin Hinterseer, Britt Maria Beckmann, Hanno L. Tan

    Baskı/Yayın Bilgisi 2006
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  7. 7
    The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

    The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative,... Yazar: Argelia Medeiros‐Domingo, Zahurul A. Bhuiyan, David J. Tester, Nynke Hofman, Hennie Bikker, J. Peter van Tintelen, Marcel M.A.M. Mannens, Arthur A.M. Wilde, Michael J. Ackerman

    Baskı/Yayın Bilgisi 2009
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  8. 8
    The Human Chitotriosidase Gene

    The Human Chitotriosidase Gene Yazar: Rolf G. Boot, G. Herma Renkema, Marri Verhoek, Anneke Strijland, Jet Bliek, T.M.A.M.O. de Meulemeester, Marcel M.A.M. Mannens, Johannes M. F. G. Aerts

    Baskı/Yayın Bilgisi 1998
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  9. 9
    Meta-Analysis of in vitro-Differentiated Macrophages Identifies Transcriptomic Signatures That Classify Disease Macrophages in vivo

    Meta-Analysis of in vitro-Differentiated Macrophages Identifies Transcriptomic Signatures That Classify Disease Macrophages in vivo Yazar: Hung‐Jen Chen, Andrew Y. F. Li Yim, Guillermo R. Griffith, Wouter J. de Jonge, Marcel M.A.M. Mannens, Enrico Ferrero, Peter Henneman, Menno P.J. de Winther

    Baskı/Yayın Bilgisi 2019
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  10. 10
    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups

    Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups Yazar: Saskia M. Maas, Fleur Vansenne, D.J. Kadouch, Abdulla Ibrahim, Jet Bliek, Saskia Hopman, Marcel M.A.M. Mannens, Johannes H. M. Merks, Eamonn R. Maher, Raoul C. M. Hennekam

    Baskı/Yayın Bilgisi 2016
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  11. 11
    Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

    Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options Yazar: Niels Vos, Lotte Kleinendorst, Liselot van der Laan, Jorrit van Uhm, Philip R. Jansen, Agnies M. van Eeghen, Saskia M. Maas, Marcel M.A.M. Mannens, Mieke M. van Haelst

    Baskı/Yayın Bilgisi 2024
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  12. 12
    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes

    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes Yazar: 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

    Baskı/Yayın Bilgisi 2013
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  13. 13
    Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair

    Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair Yazar: Mischa G. Vrouwe, Elhaam Elghalbzouri-Maghrani, Matty Meijers, Peter Schouten, Barbara C. Godthelp, Zahurul A. Bhuiyan, E. Redeker, Marcel M.A.M. Mannens, Leon H.F. Mullenders, Albert Pastink, F. Darroudi

    Baskı/Yayın Bilgisi 2007
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  14. 14
    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes

    DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes Yazar: Jan Maarten Cobben, I. Krzyzewska, Andrea Venema, Adri N. Mul, Abeltje M. Polstra, Alex V. Postma, Robert Śmigiel, Karolina Pesz, Jacek Nikliński, Monika Chomczyk, Peter Henneman, Marcel M.A.M. Mannens

    Baskı/Yayın Bilgisi 2019
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  15. 15
    A monozygotic twin pair with highly discordant Gaucher phenotypes

    A monozygotic twin pair with highly discordant Gaucher phenotypes Yazar: M. Biegstraaten, Ivo N. van Schaik, Johannes M. F. G. Aerts, Mirjam Langeveld, Marcel M.A.M. Mannens, Lo J. Bour, Ellen Sidransky, Nahid Tayebi, E. J. Fitzgibbon, Carla E. M. Hollak

    Baskı/Yayın Bilgisi 2010
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  16. 16
    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 Yazar: 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

    Baskı/Yayın Bilgisi 2009
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  17. 17
    Peripheral blood methylation profiling of female Crohn’s disease patients

    Peripheral blood methylation profiling of female Crohn’s disease patients Yazar: Andrew Y. F. Li Yim, Nicolette W. Duijvis, Jing Hua Zhao, Wouter J. de Jonge, Geert D’Haens, Marcel M.A.M. Mannens, Adri N. Mul, Anje A. te Velde, Peter Henneman

    Baskı/Yayın Bilgisi 2016
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  18. 18
    Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

    Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders Yazar: Niels Vos, Sabrina M. Oussaada, Mellody I. Cooiman, Lotte Kleinendorst, Kasper W. ter Horst, Eric J. Hazebroek, Johannes A. Romijn, Mireille J. Serlie, Marcel M.A.M. Mannens, Mieke M. van Haelst

    Baskı/Yayın Bilgisi 2020
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  19. 19
    Cow’s milk allergy in Dutch children: an epigenetic pilot survey

    Cow’s milk allergy in Dutch children: an epigenetic pilot survey Yazar: Nicole C. M. Petrus, Peter Henneman, Andrea Venema, Adri N. Mul, Femke van Sinderen, Martin A. Haagmans, Olaf R.F. Mook, Raoul C. M. Hennekam, A. B. Sprikkelman, Marcel M.A.M. Mannens

    Baskı/Yayın Bilgisi 2016
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  20. 20
    Compound Heterozygosity for Mutations (W156X and R225W) in <i>SCN5A</i> Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

    Compound Heterozygosity for Mutations (W156X and R225W) in <i>SCN5A</i> Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System Yazar: Connie R. Bezzina, Martin B. Rook, W. Antoinette Groenewegen, Lucas J. Herfst, Allard C. van der Wal, J.N.G.P. Lam, Habo J. Jongsma, Arthur A.M. Wilde, Marcel M.A.M. Mannens

    Baskı/Yayın Bilgisi 2003
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