Search Results - Meyke Schouten

  • Showing 1 - 9 results of 9
Refine Results
  1. 1
    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

    Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders by Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies by Maartje Pennings, Rowdy Meijer, Monique M. Gerrits, Jannie W.H. Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol C. Voermans, Bart van de Warrenburg, Erik‐Jan Kamsteeg

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

    Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield by Bart van der Sanden, Jordi Corominas, Michelle de Groot, Maartje Pennings, Rowdy Meijer, Nienke E. Verbeek, Bart van de Warrenburg, Meyke Schouten, Helger G. Yntema, Lisenka E.L.M. Vissers, Erik‐Jan Kamsteeg, Christian Gilissen

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect

    Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect by Bram Perdu, Fenna de Freitas, Suzanna G.M. Frints, Meyke Schouten, Connie Schrander‐Stumpel, Mafalda Barbosa, Jorge Pinto‐Basto, Margarida Reis‐Lima, Marie‐Christine de Vernejoul, Kristin Becker, Marie-Louise Freckmann, Kathelijn Keymolen, Eric Haan, Ravi Savarirayan, Rainer Koenig, Bernhard Zabel, Filip Vanhoenacker, Wim Van Hul

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy

    Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy by Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes, Lisa G. Riley, Desirée E.C. Smith, Joëlle Rudinger‐Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frédéric Tran Mau‐Them, Richard J. Rodenburg, Ryan J. Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S. Salomons, Fanny Mochel

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    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 by 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

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Maartje Pennings, Meyke Schouten, Judith van Gaalen, Rowdy Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck‐Zwarts, Christine de Die‐Smulders, Eva H. Brilstra, Corien Verschuuren, Bert B.A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A.M. Duijkers, Bregje Jaeger, Jolanda Schieving, Bart P.C. van de Warrenburg, Erik-Jan Kamsteeg

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy by Ana Töpf, Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini‐Bettolo, Jordi Díaz‐Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina England, Jane Patrick, Sundos Al-Husayni, Valérie Biancalana, Alan H. Beggs, István Bódi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik‐Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell‐Luria, Narumi Ogonuki, Gina O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace E. VanNoy, Nicol C. Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vílchez, Daniel G. MacArthur, Anna Sárközy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch‐Nentwich, Francesco Muntoni, Volker Straub

    Published 2024
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP by Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar

    Published 2018
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: