Search Results - Manon Suerink

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  1. 1
    ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management

    ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management by Chrystelle Colas, Léa Guerrini‐Rousseau, Manon Suerink, Richard Gallon, Christian P. Kratz, Éloïse Ayuso, Laurence Brugières, Katharina Wimmer

    Published 2024
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  2. 2
    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 by 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

    Published 2023
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  3. 3
    Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients

    Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients by Diantha Terlouw, Arnoud Boot, Quinten R. Ducarmon, Sam Nooij, Manon Suerink, Monique E. van Leerdam, Demi van Egmond, Carli M.J. Tops, Romy D. Zwittink, Dina Ruano, Alexandra M. J. Langers, Maartje Nielsen, Tom van Wezel, Hans Morreau

    Published 2024
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  4. 4
    Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

    Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy by Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H. Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn C.J. Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris, Mariëtte van Kouwen, Irene Slavc, Christian P. Kratz, Hans F. A. Vasen, Laurence Brugiѐres, Eric Legius, Katharina Wimmer

    Published 2018
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  5. 5
    Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk

    Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk by Sanne W. ten Broeke, Richard M. Brohet, Carli M.J. Tops, Heleen M. van der Klift, Mary E. Velthuizen, Inge Bernstein, Gabriel Capellà, E. Gómez, Nicoline Hoogerbrugge, Tom G.W. Letteboer, Fred H. Menko, Annika Lindblom, Arjen R. Mensenkamp, Pål Møller, Theo A. van Os, Nils Rahner, Bert J. W. Redeker, Rolf H. Sijmons, Liesbeth Spruijt, Manon Suerink, Yvonne J. Vos, Anja Wagner, Frederik J. Hes, Hans F. A. Vasen, Maartje Nielsen, Juul Wijnen

    Published 2014
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  6. 6
    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

    A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes by Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, Harsh Sheth, Christine Hayes, Stefan Aretz, Karin Dahan, William D. Foulkes, Christian P. Kratz, Tim Ripperger, Amedeo A. Azizi, Hagit Baris Feldman, Anne‐Laure Chong, Uğur Demırsoy, Benoît Florkin, Thomas Imschweiler, Danuta Januszkiewicz‐Lewandowska, Stephan Lobitz, Michaela Nathrath, Hans-Jürgen Pander, Vanesa Pérez‐Alonso, Claudia Perne, Iman Ragab, Thorsten Rosenbaum, Daniel Rueda, Markus G. Seidel, Manon Suerink, Julia Taeubner, Stefanie Zimmermann, Johannes Zschocke, Gillian M. Borthwick, John Burn, Michael S. Jackson, Mauro Santibanez‐Koref, Katharina Wimmer

    Published 2019
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  7. 7
    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome

    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome by Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capellà, Mark Clendenning, Christoph Engel, Steven Gallinger, E. Gómez, Jane C. Figueiredo, Robert W. Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loı̈c Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, E. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney J. Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke‐Lange, Manon Suerink, Stephen N. Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F. A. Vasen, Juul Wijnen, Maartje Nielsen, Aung Ko Win

    Published 2018
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  8. 8
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... by Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    Published 2022
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