检索结果 - Richarda M. de Voer

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  1. 1
    <i>NTHL1</i> and <i>MUTYH</i> polyposis syndromes: two sides of the same coin?

    <i>NTHL1</i> and <i>MUTYH</i> polyposis syndromes: two sides of the same coin? 由 Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, Ad Geurts van Kessel, Richarda M. de Voer, Nicoline Hoogerbrugge, Roland P. Kuiper

    出版 2017
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  2. 2
    Update on genetic predisposition to colorectal cancer and polyposis

    Update on genetic predisposition to colorectal cancer and polyposis 由 Laura Valle, Richarda M. de Voer, Yael Goldberg, Wenche Sjursen, Asta Försti, Clara Ruíz-Ponte, Trinidad Caldés, Pilar Garré, Maren Fridtjofsen Olsen, Margareta Nordling, Sergi Castellvı́-Bel, Kari Hemminki

    出版 2019
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  3. 3
    Seroprevalence and Placental Transportation of Maternal Antibodies Specific for<i>Neisseria meningitidis</i>Serogroup C,<i>Haemophilus influenzae</i>Type B, Diphtheria, Tetanus, and Pertussis

    Seroprevalence and Placental Transportation of Maternal Antibodies Specific for<i>Neisseria meningitidis</i>Serogroup C,<i>Haemophilus influenzae</i>Type B, Diphtheria, Tetanus, an... 由 Richarda M. de Voer, Fiona van der Klis, Judith E. Nooitgedagt, F. G. A. Versteegh, J. C. M. van Huisseling, Debbie M. van Rooijen, Elisabeth A. M. Sanders, Guy A. M. Berbers

    出版 2009
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  4. 4
    TINF2 is a haploinsufficient tumor suppressor that limits telomere length

    TINF2 is a haploinsufficient tumor suppressor that limits telomere length 由 Isabelle Schmutz, Arjen R. Mensenkamp, Kaori Takai, Maaike Haadsma, Liesbeth Spruijt, Richarda M. de Voer, Seunga Choo, Franziska K. Lorbeer, Emma J van Grinsven, Dirk Hockemeyer, Marjolijn C.J. Jongmans, Titia de Lange

    出版 2020
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  5. 5
    Immunity against Neisseria meningitidis Serogroup C in the Dutch Population before and after Introduction of the Meningococcal C Conjugate Vaccine

    Immunity against Neisseria meningitidis Serogroup C in the Dutch Population before and after Introduction of the Meningococcal C Conjugate Vaccine 由 Richarda M. de Voer, Liesbeth Mollema, Rutger M. Schepp, Sabine C. de Greeff, Pieter G. M. van Gageldonk, Hester E. de Melker, Elisabeth A. M. Sanders, Guy A. M. Berbers, Fiona van der Klis

    出版 2010
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  6. 6
    Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes

    Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes 由 Snežana Hinić, Arjen R. Mensenkamp, Janneke Schuurs-Hoeijmakers, Fulvia Brugnoletti, Lilian Vreede, Elke M. van Veen, Barend Mijzen, Rachel S. van der Post, Maurizio Genuardi, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Richarda M. de Voer

    出版 2025
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  7. 7
    Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

    Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer 由 Richarda M. de Voer, Marc‐Manuel Hahn, Arjen R. Mensenkamp, Alexander Hoischen, Christian Gilissen, Arjen Henkes, Liesbeth Spruijt, Wendy A. van Zelst-Stams, C. Marleen Kets, Eugène T.P. Verwiel, Irıs D. Nagtegaal, Hans K. Schackert, Ad Geurts van Kessel, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    出版 2015
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  8. 8
    Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

    Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation 由 Shawn Yost, Bas de Wolf, Sandra Hanks, Anna Zachariou, Chiara Marcozzi, Matthew Clarke, Richarda M. de Voer, Banafsheh Etemad, Esther C. H. Uijttewaal, Emma Ramsay, Harriet Wylie, Anna Elliott, Susan Picton, Audrey Smith, Sarah Smithson, Sheila Seal, Elise Ruark, Gunnar Houge, Jonathon Pines, Geert J.P.L. Kops, Nazneen Rahman

    出版 2017
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  9. 9
    Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

    Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility 由 Richarda M. de Voer, Marc‐Manuel Hahn, Robbert D.A. Weren, Arjen R. Mensenkamp, Christian Gilissen, Wendy A. van Zelst-Stams, Liesbeth Spruijt, C. Marleen Kets, Junxiao Zhang, Hanka Venselaar, Lilian Vreede, Nil A. Schubert, Marloes Tychon, Ronny Derks, Hans K. Schackert, Ad Geurts van Kessel, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    出版 2016
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  10. 10
    Evaluation of a Hybrid Capture–Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes

    Evaluation of a Hybrid Capture–Based Pan-Cancer Panel for Analysis of Treatment Stratifying Oncogenic Aberrations and Processes 由 Leonie I. Kroeze, Richarda M. de Voer, Eveline J. Kamping, Daniel von Rhein, Erik A. M. Jansen, Mandy J. W. Hermsen, Massimo Barberis, Johan Botling, Eva M. Garrido-Martín, Florian Haller, Ludovic Lacroix, Brigitte Maes, Sabine Merkelbach‐Bruse, Valerie Pestinger, Nicole Pfarr, Albrecht Stenzinger, Michel M. van den Heuvel, Katrien Grünberg, Marjolijn J. L. Ligtenberg

    出版 2020
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  11. 11
    Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

    Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency 由 Dilys Weijers, Snežana Hinić, Emma Kroeze, Mark A.J. Gorris, Gerty Schreibelt, Sjors Middelkamp, Arjen R. Mensenkamp, Reno S. Bladergroen, Kiek Verrijp, Nicoline Hoogerbrugge, Pieter Wesseling, Rachel S. van der Post, Jan Loeffen, Corrie Gidding, Mariëtte Ca van Kouwen, I. Jolanda M. de Vries, Ruben van Boxtel, Richarda M. de Voer, Marjolijn C.J. Jongmans, Roland P. Kuiper

    出版 2025
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  12. 12
    Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer

    Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer 由 Richarda M. de Voer, Ad Geurts van Kessel, Robbert D.A. Weren, Marjolijn J. L. Ligtenberg, Dominique Smeets, Lei Fu, Lilian Vreede, Eveline J. Kamping, Eugène T.P. Verwiel, Marc–Manuel Hahn, Maayke Ariaans, Liesbeth Spruijt, Ton van Essen, Gunnar Houge, Hans K. Schackert, Jian Sheng, Hanka Venselaar, Conny M.A. van Ravenswaaij‐Arts, J. Han van Krieken, Nicoline Hoogerbrugge, Roland P. Kuiper

    出版 2013
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  13. 13
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 由 Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ‘t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, Tobias B. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernández-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem

    出版 2021
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  14. 14
    Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

    Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype 由 Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed, Maartje Nielsen, Robbert D.A. Weren, Claire Palles, Marjolijn J. L. Ligtenberg, Janet R. Vos, Sanne W. ten Broeke, Noel F.C.C. de Miranda, Renske Kuiper, Eveline J. Kamping, Erik A. M. Jansen, M. Elisa Vink-Börger, I Popp, Alois Lang, Isabel Spier, Robert Hüneburg, Paul A. James, Na Li, Marija Staninova, Helen Lindsay, D.J. Cockburn, Olivera Spasić-Bošković, Mark Clendenning, Kevin Sweet, Gabriel Capellà, Wenche Sjursen, Hildegunn Høberg‐Vetti, Marjolijn C.J. Jongmans, Kornelia Neveling, Ad Geurts van Kessel, Hans Morreau, Frederik J. Hes, Rolf H. Sijmons, Hans K. Schackert, Clara Ruíz-Ponte, Dagmara Dymerska, Jan Lubiński, Bárbara Rivera, William D. Foulkes, Ian Tomlinson, Laura Valle, Daniel D. Buchanan, Sue Kenwrick, Julian Adlard, Aleksandar Dimovski, Ian Campbell, Stefan Aretz, Detlev Schindler, Tom van Wezel, Nicoline Hoogerbrugge, Roland P. Kuiper

    出版 2019
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  15. 15
    Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

    Germline MBD4 deficiency causes a multi-tumor predisposition syndrome 由 Claire Palles, Hannah D. West, Edward Chew, Sara Galavotti, Christoffer Flensburg, Judith E. Grolleman, Erik A. M. Jansen, Helen Curley, Laura Chegwidden, Edward H. Arbe-Barnes, Nicola Lander, Rebekah Truscott, Judith Pagan, Ashish Bajel, Kitty Sherwood, Lynn Martin, Huw Thomas, Demetra Georgiou, Florentia Fostira, Yael Goldberg, David J. Adams, Simone A.M. van der Biezen, Michael Christie, Mark Clendenning, Laura E. Thomas, Constantinos Deltas, Aleksandar Dimovski, Dagmara Dymerska, Jan Lubiński, Khalid Mahmood, Rachel S. van der Post, Mathijs A. Sanders, Jürgen Weitz, Jenny C. Taylor, Clare Turnbull, Lilian Vreede, Tom van Wezel, Celina Whalley, Claudia Arnedo-Pac, Giulio Caravagna, William Cross, Daniel Chubb, Anna Frangou, Andreas Gruber, Ben Kinnersley, Boris Noyvert, David N. Church, Trevor A. Graham, Richard S. Houlston, Núria López-Bigas, Andrea Sottoriva, David C. Wedge, Mark A. Jenkins, Roland P. Kuiper, Andrew W. Roberts, Jeremy P. Cheadle, Marjolijn J. L. Ligtenberg, Nicoline Hoogerbrugge, Viktor H. Koelzer, Andrés Dacal Rivas, Ingrid Winship, Clara Ruiz Ponte, Daniel D. Buchanan, Derek G. Power, Andrew Green, Ian Tomlinson, Julian R. Sampson, Ian J. Majewski, Richarda M. de Voer

    出版 2022
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  16. 16
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 由 Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    出版 2021
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  17. 17
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses 由 Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans, Anna Sommer, German Demidov, Kornelia Ellwanger, Marcos Fernandez-Callejo, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jordi Díaz‐Manera, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Stéphanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Michael G. Hanna, Holger Hengel, Rita Horváth, Henry Houlden, Adam Jackson, Lennart Johansson, Anna Marcé‐Grau, Erik-Jan Kamsteeg, Melanie Kellner, Elke de Boer, Didier Lacombe, Hanns Lochmüller, Estrella López‐Martín, Alfons Macaya, Anna Marcé‐Grau, Aleš Maver, Mary Reilly, Francesco Muntoni, Francesco Musacchia, Gisèle Bonne, Vincenzo Nigro, Catarina Olimpio, Carla Oliveíra, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Verena Steinke‐Lange, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcová, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Iris te Paske, Nienke van Os, Jean‐Madeleine de Sainte Agathe, Liedewei Van de Vondel, Bart van de Warrenburg, Lisenka E.L.M. Vissers, Anthony J. Brookes, Teresinha Evangelista

    出版 2025
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