Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Klaske, Lichtenbelt"'
Autor:
Yil Severijns, Hein de Vries, Gita Tan-Sindhunata, Kyra Stuurman, Cecile Ottenheim, Klaske Lichtenbelt, Sander van Kuijk, Sara Joosten, Elisa J. F. Houwink, Rik Crutzen, Nicole Corsten-Janssen, Emilia Bijlsma, Christine de Die-Smulders, Liesbeth van Osch
Publikováno v:
Health Psychology Bulletin; Vol 7 (2023); 17–26
Introduction: Couples at high risk of transmitting a genetic disease to their offspring have several reproductive options. As decision making is often experienced as difficult, there is a need for a decision aid (DA), to assist couples in their repro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cee5936365139e4f3cc1243b6606ee0
https://doi.org/10.5334/hpb.39
https://doi.org/10.5334/hpb.39
Autor:
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld
Publikováno v:
Human Mutation. 43:1844-1851
TATA-binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d693dc401797f12590f81953365c5f3
https://doi.org/10.1002/humu.24444
https://doi.org/10.1002/humu.24444
Autor:
Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Ewart W. Kuijk, Kim L. de Luca, Nico Lansu, A. Koen Braat, Androniki Menelaou, Wensi Hao, Jeroen Korving, Simone Snijder, Lars T. van der Veken, Ron Hochstenbach, Alida C. Knegt, Karen Duran, Ivo Renkens, Najla Alekozai, Myrthe Jager, Sarah Vergult, Björn Menten, Ewart de Bruijn, Sander Boymans, Elly Ippel, Ellen van Binsbergen, Michael E. Talkowski, Klaske Lichtenbelt, Edwin Cuppen, Wigard P. Kloosterman
Publikováno v:
Cell Reports, Vol 9, Iss 6, Pp 2001-2010 (2014)
Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangeme
Externí odkaz:
https://doaj.org/article/3fde279ae3264a15b1b84b25ba00f8e2
Akademický článek
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Autor:
Heleen, Schuring-Blom, Klaske, Lichtenbelt, Karin, van Galen, Martin, Elferink, Marjan, Weiss, Joris Robert, Vermeesch, Lieve, Page-Christiaens
Publikováno v:
Prenatal diagnosis. 36(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3f850f2d4e1af1a8ec6acc4b47da17e
https://pubmed.ncbi.nlm.nih.gov/27328203
https://pubmed.ncbi.nlm.nih.gov/27328203
Autor:
Bert H. F. Derkx, Hans A. Büller, Irene Schornagel, Jan A.J.M. Taminiau, Kate Fiebo ten, Klaske Lichtenbelt, Johanna C. Escher
Publikováno v:
Inflammatory bowel diseases, 8(1), 16-22. John Wiley and Sons Inc.
Background In children with inflammatory bowel disease (IBD), treatment depends on the type and extent of disease. Therefore, maximal effort should be made to provide a correct diagnosis. The aim of this study was to assess the value of a histologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a74687866247e649fcbe4e2201349af5
https://doi.org/10.1097/00054725-200201000-00003
https://doi.org/10.1097/00054725-200201000-00003