Resultados de búsqueda - Lisenka E.L.M. Vissers

Limitar resultados
  1. 1
    The Genetics of Intellectual Disability

    The Genetics of Intellectual Disability por Sandra Jansen, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Publicado 2023
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  2. 2
    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis por Lisenka E.L.M. Vissers, Bert B.A. de Vries, Joris A. Veltman

    Publicado 2009
    Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  3. 3
    A systematic review and standardized clinical validity assessment of male infertility genes

    A systematic review and standardized clinical validity assessment of male infertility genes por Manon S. Oud, Ludmila Voložonoka, Roos M. Smits, Lisenka E.L.M. Vissers, Liliana Ramos, Joris A. Veltman

    Publicado 2019
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  4. 4
    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes por Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  5. 5
    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation por Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint, Maartje van de Vorst, Michele Pinelli, Joris A. Veltman, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    Publicado 2015
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  6. 6
    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 por 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

    Publicado 2023
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  7. 7
    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases por Lotte Krabbenborg, Lisenka E.L.M. Vissers, Jolanda Schieving, Tjitske Kleefstra, Erik-Jan Kamsteeg, Joris A. Veltman, Michèl A.A.P. Willemsen, Simone van der Burg

    Publicado 2016
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  8. 8
    1 in 38 individuals at risk of a dominant medically actionable disease

    1 in 38 individuals at risk of a dominant medically actionable disease por Lonneke Haer‐Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T. Vulto‐van Silfhout, Christian Gilissen, Han G. Brunner, Lisenka E.L.M. Vissers, Helger G. Yntema

    Publicado 2018
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  9. 9
    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 por 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

    Publicado 2016
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  10. 10
    Mobster: accurate detection of mobile element insertions in next generation sequencing data

    Mobster: accurate detection of mobile element insertions in next generation sequencing data por Djie Tjwan Thung, Joep de Ligt, Lisenka E.L.M. Vissers, Marloes Steehouwer, Mark Kroon, Petra de Vries, P. Eline Slagboom, Kai Ye, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  11. 11
    Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

    Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia por Manon S. Oud, Özlem Okutman, Linda A.J. Hendricks, Petra F. de Vries, Brendan J. Houston, Lisenka E.L.M. Vissers, Moira K. O’Bryan, Liliana Ramos, H Chemes, Stéphane Viville, Joris A. Veltman

    Publicado 2019
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  12. 12
    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 por 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

    Publicado 2021
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  13. 13
    Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function

    Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function por Marjolein H. Willemsen, Wei Ba, W.M. Wissink-Lindhout, Arjan P.M. de Brouwer, Stefan A. Haas, Melanie Bienek, Hao Hu, Lisenka E.L.M. Vissers, Hans van Bokhoven, Vera M. Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  14. 14
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing por Erdi Küçük, Bart van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E.L.M. Vissers, Alexander Hoischen, Christian Gilissen

    Publicado 2023
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  15. 15
    Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

    Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing por Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O’Moore, Nicole de Leeuw, Christine J. Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    Publicado 2013
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  16. 16
    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP por Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga

    Publicado 2011
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  17. 17
    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome por Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan Holder, Gabriele Gillessen‐Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen‐Snuijf, Sarina G. Kant, Lies H. Hoefsloot, William Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath

    Publicado 2012
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  18. 18
    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome por Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A.A.P. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner

    Publicado 2012
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  19. 19
    A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

    A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology por Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke P.C. Grutters, Joris A. Veltman, Michèl A.A.P. Willemsen

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  20. 20
    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 por 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

    Publicado 2022
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:

Herramientas de búsqueda: