Výsledky vyhledávání - Marcel Nelen

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  1. 1
    Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease

    Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease Autor Marcel Nelen

    Vydáno 1997
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  2. 2
    In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication.

    In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication. Autor Steven C. Ghivizzani, C S Madsen, Marcel Nelen, Chandramohan V. Ammini, William W. Hauswirth

    Vydáno 1994
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  3. 3
    Clinical exome sequencing—Mistakes and caveats

    Clinical exome sequencing—Mistakes and caveats Autor Jordi Corominas, Sanne P. Smeekens, Marcel Nelen, Helger G. Yntema, Erik‐Jan Kamsteeg, Rolph Pfundt, Christian Gilissen

    Vydáno 2022
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  4. 4
    Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15

    Prader–Willi Syndrome and Angelman Syndrome in Cousins from a Family with a Translocation between Chromosomes 6 and 15 Autor Dominique Smeets, Ben C.J. Hamel, Marcel Nelen, H. Smeets, J. Bollen, Arie P.T. Smits, Hans‐Hilger Ropers, Bernard A. van Oost

    Vydáno 1992
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  5. 5
    Reverse Mutation in Myotonic Dystrophy

    Reverse Mutation in Myotonic Dystrophy Autor Han G. Brunner, Gert Jansen, Willy M. Nillesen, Marcel Nelen, Christine de Die, C Höweler, Bernard A. van Oost, Bé Wieringa, Hans‐Hilger Ropers, Hubert J.M. Smeets

    Vydáno 1993
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  6. 6
    Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

    Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing Autor K.J.M. van Nimwegen, Ronald A van Soest, Joris A. Veltman, Marcel Nelen, Gert Jan van der Wilt, Lisenka E.L.M. Vissers, Janneke P.C. Grutters

    Vydáno 2016
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  7. 7
    Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

    Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags Autor Astrid Eijkelenboom, Eveline J. Kamping, Annemiek W. Kastner-van Raaij, Sandra J. B. Hendriks-Cornelissen, Kornelia Neveling, Roland P. Kuiper, Alexander Hoischen, Marcel Nelen, Marjolijn J. L. Ligtenberg, Bastiaan B.J. Tops

    Vydáno 2016
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  8. 8
    Long-read trio sequencing of individuals with unsolved intellectual disability

    Long-read trio sequencing of individuals with unsolved intellectual disability Autor Marc Pauper, Erdi Küçük, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    Vydáno 2020
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  9. 9
    Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

    Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations Autor Marcel Nelen, Hannie Kremer, Irene B. M. Konings, F. Schoute, Anton J van Essen, Rainer Koch, C. Geoffrey Woods, Jean‐Pierre Fryns, Ben C.J. Hamel, Lies H. Hoefsloot, E Peeters, George W. Padberg

    Vydáno 1999
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  10. 10
    Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

    Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead Autor Abigail Veldman, Mensiena B. G. Kiewiet, M. Rebecca Heiner‐Fokkema, Marcel Nelen, Richard J. Sinke, Birgit Sikkema‐Raddatz, Els Voorhoeve, Dineke Westra, Martijn E.T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen

    Vydáno 2022
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  11. 11
    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 Autor 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

    Vydáno 2013
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  12. 12
    Novel<i>BRCA1</i>and<i>BRCA2</i>Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

    Novel<i>BRCA1</i>and<i>BRCA2</i>Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas Autor Robbert D.A. Weren, Arjen R. Mensenkamp, Michiel Simons, Astrid Eijkelenboom, Aisha S. Sie, Hicham Ouchene, M. van Asseldonk, E. Gómez, Marinus J. Blok, Joanne A. de Hullu, Marcel Nelen, Alexander Hoischen, Johan Bulten, Bastiaan B.J. Tops, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg

    Vydáno 2016
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  13. 13
    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications Autor Gaby Schobers, Jolanda Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik‐Jan Kamsteeg, Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers

    Vydáno 2022
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  14. 14
    A multi-platform reference for somatic structural variation detection

    A multi-platform reference for somatic structural variation detection Autor Jose Espejo Valle-Inclán, Nicolle Besselink, Ewart de Bruijn, Daniel Cameron, Jana Ebler, Joachim Kutzera, Stef van Lieshout, Tobias Marschall, Marcel Nelen, Peter Priestley, Ivo Renkens, Margaretha G.M. Roemer, Markus J. van Roosmalen, Aaron M. Wenger, Bauke Ylstra, Remond J.A. Fijneman, Wigard P. Kloosterman, Edwin Cuppen

    Vydáno 2022
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  15. 15
    Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors

    Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors Autor Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, Kornelia Neveling, Arjen R. Mensenkamp, Freerk van Dijk, Jayne Y. Hehir‐Kwa, Ronnie Derks, Michael Kwint, Luke O’Gorman, Madalena Tropa Martins, Corrie Gidding, Maarten H. Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, Jacklyn Biegel, Alexander Hoischen, Marjolijn C.J. Jongmans, Roland P. Kuiper

    Vydáno 2021
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  16. 16
    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder Autor Bert van der Zwaag, Wouter Staal, Ron Hochstenbach, Martin Poot, Henk A. Spierenburg, Maretha Jonge, Nienke E. Verbeek, Ruben van ‘t Slot, Michael A. van Es, Frank J. T. Staal, Christine M. Freitag, Jacobine E. Buizer‐Voskamp, Marcel Nelen, Leonard H. van den Berg, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach

    Vydáno 2009
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  17. 17
    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders Autor Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Vydáno 2016
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  18. 18
    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy Autor Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom Hofste, Martine van Zweeden, Ronny Derks, Nico Leijsten, Martina Ruiterkamp‐Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G.M. de Sain‐van der Velden, Els Voorhoeve, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, Birgit Sikkema‐Raddatz, Marcel Nelen

    Vydáno 2024
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  19. 19
    Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients

    Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients Autor Zahurul A. Bhuiyan, Jan D.H. Jongbloed, Jasper van der Smagt, Paola M. Lombardi, Ans C.P. Wiesfeld, Marcel Nelen, Meyke Schouten, Roselie Jongbloed, Moniek G.P.J. Cox, Marleen van Wolferen, Luz M. Rodriguez, Isabelle C. Van Gelder, Hennie Bikker, Albert J.H. Suurmeijer, Maarten P. van den Berg, Marcel M.A.M. Mannens, Richard N.W. Hauer, Arthur A.M. Wilde, J. Peter van Tintelen

    Vydáno 2009
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  20. 20
    Localization of the gene for Cowden disease to chromosome 10q22–23

    Localization of the gene for Cowden disease to chromosome 10q22–23 Autor Marcel Nelen, G.W. Padberg, E Peeters, Albert Y. Lin, Bellinda van den Helm, Rune R. Frants, V. Goulon, Alisa M. Goldstein, M.M.M van Reen, D.F. Eastern, Rosalind A. Eeles, Shirley Hodgson, John J. Mulvihill, Victoria A. Murday, M. A. Tucker, Edwin C.M. Mariman, Theo M. Starink, B. A. J. Ponder, Hans‐Hilger Ropers, Hannie Kremer, Michel Longy, Charis Eng

    Vydáno 1996
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