Sökresultat - Claudia Ruivenkamp

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  1. 1
    MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

    MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature av Jan M. Wit, Wilma Oostdijk, Monique Losekoot, Hermine A. van Duyvenvoorde, Claudia Ruivenkamp, Sarina G. Kant

    Publicerad 2015
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  2. 2
    A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

    A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents av Jeroen Knijnenburg, Saskia A.J. Lesnik Oberstein, Klemens Frei, Trevor Lucas, A.C.J. Gijsbers, Claudia Ruivenkamp, Hans J. Tanke, Károly Szuhai

    Publicerad 2009
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  3. 3
    Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

    Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? av Yu Sun, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Terry Vrijenhoek, Marjolein Kriek, Christi J. van Asperen, Johan T. den Dunnen, Gijs W.E. Santen

    Publicerad 2015
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  4. 4
    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context av Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, Esther Nibbeling, Claudia Ruivenkamp, Saskia Koene

    Publicerad 2023
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  5. 5
    The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status

    The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status av Mehmet Doğrusöz, Mette Bagger, Sjoerd G. van Duinen, Wilma G. M. Kroes, Claudia Ruivenkamp, Stefan Böhringer, Klaus Kaae Andersen, Gregorius P. M. Luyten, Jens Folke Kiilgaard, Martine J. Jager

    Publicerad 2017
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  6. 6
    Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma

    Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma av Mieke Versluis, Mark J. de Lange, Sake I. van Pelt, Claudia Ruivenkamp, Wilma G. M. Kroes, Jinfeng Cao, Martine J. Jager, Gré P.M. Luyten, Pieter A. van der Velden

    Publicerad 2015
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  7. 7
    Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy

    Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy av Kornvalee Meesilpavikkai, Willem A. Dik, Benjamin Schrijver, Cornelia G van Helden-Meeuwsen, Marjan A. Versnel, P. Martin van Hagen, Emilia K. Bijlsma, Claudia Ruivenkamp, Margreet J. Oele, Virgil A. S. H. Dalm

    Publicerad 2019
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  8. 8
    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first av Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp

    Publicerad 2009
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  9. 9
    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care av Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema, Cacha Peeters‐Scholte, Tamara T. Koopmann, Esther Nibbeling, Emmelien Aten, Nicolette S. den Hollander, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Gijs W.E. Santen

    Publicerad 2019
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  10. 10
    Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

    Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene av Hermine A. van Duyvenvoorde, P.A. van Setten, M.J.E. Walenkamp, J. van Doorn, Jens Koenig, Lisbeth Gauguin, Wilma Oostdijk, Claudia Ruivenkamp, Monique Losekoot, John D. Wade, Pierre De Meyts, Marcel Karperien, C. Noordam, Jan M. Wit

    Publicerad 2010
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  11. 11
    Heterogeneity revealed by integrated genomic analysis uncovers a molecular switch in malignant uveal melanoma

    Heterogeneity revealed by integrated genomic analysis uncovers a molecular switch in malignant uveal melanoma av Mark J. de Lange, Sake I. van Pelt, Mieke Versluis, Ekaterina S. Jordanova, Wilma G. M. Kroes, Claudia Ruivenkamp, Sjoerd H. van der Burg, Gregorius P. M. Luyten, Thorbald van Hall, Martine J. Jager, Pieter A. van der Velden

    Publicerad 2015
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  12. 12
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories av Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep

    Publicerad 2013
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  13. 13
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant av Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch

    Publicerad 2008
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  14. 14
    Central 22q11.2 deletions

    Central 22q11.2 deletions av Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Publicerad 2014
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  15. 15
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature av Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    Publicerad 2020
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  16. 16
    Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

    Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms av Wigard P. Kloosterman, Masoumeh Tavakoli‐Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen

    Publicerad 2012
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  17. 17
    Prognostic parameters in uveal melanoma and their association with BAP1 expression

    Prognostic parameters in uveal melanoma and their association with BAP1 expression av T. Huibertus van Essen, Sake I. van Pelt, Mieke Versluis, Inge H. G. Bronkhorst, Sjoerd G. van Duinen, Marina Marinkovic, Wilma G. M. Kroes, Claudia Ruivenkamp, Shruti Shukla, Annelies de Klein, Emine Kılıç, J. William Harbour, Gregorius P. M. Luyten, Pieter A. van der Velden, Robert M. Verdijk, Martine J. Jager

    Publicerad 2014
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  18. 18
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment av Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    Publicerad 2010
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  19. 19
    An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

    An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities av Sabine E Hannema, Hermine A. van Duyvenvoorde, Thomas Premsler, Ruey‐Bing Yang, Thomas D. Mueller, Birgit Gaßner, Heike Oberwinkler, Ferdinand Roelfsema, Gijs W.E. Santen, Timothy C. R. Prickett, Sarina G. Kant, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Eric A. Espiner, Claudia Ruivenkamp, Wilma Oostdijk, Alberto M. Pereira, Monique Losekoot, Michaela Kühn, Jan M. Wit

    Publicerad 2013
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  20. 20
    Copy number variants in patients with short stature

    Copy number variants in patients with short stature av Hermine A. van Duyvenvoorde, Julian C. Lui, Sarina G. Kant, Wilma Oostdijk, Antoinet C.J. Gijsbers, Mariëtte J.V. Hoffer, Marcel Karperien, M.J.E. Walenkamp, C. Noordam, Paul G. Voorhoeve, Verónica Mericq, Alberto M. Pereira, Hedi L Claahsen-van de Grinten, Sandy A. van Gool, Martijn H. Breuning, Monique Losekoot, Jeffrey Baron, Claudia Ruivenkamp, Jan M. Wit

    Publicerad 2013
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