Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Wouter Steyaert"'
Autor:
Fiona Haslam McKenzie, Wouter Steyaert, Marije Koopmans, Banu Güzel Nur, Paul Coucke, Bert Callewaert, Siren Berland, Anita Rauch, Ilse Meerschaut, Florence Petit, Emma Wakeling, Edward Blair, Kathelijn Keymolen, Bernadette C. Hanna, Pascale Ribai, Shana De Coninck, Isabelle Migeotte, Frank Plasschaert, Vinod Varghese, Carina Wallgren-Pettersson, Andrew Green, Melissa Lees, Damien Lederer, Anne De Paepe, Angela Barnicoat, Irene Stolte-Dijkstra, Juliette Piard, Irene Valenzuela, Anna de Burca, Jeroen Breckpot, Franco Stanzial, Sally Ann Lynch, Iratxe Salcedo Pacheco, Ercan Mihci, Alison Male, Pradeep Vasudevan, Daniël De Wolf, Francesco Benedicenti, Cheryl Longman, Allan Bayat, Sixto García-Miñaur, Sofie Symoens, Anne Destree
Publikováno v:
Genetics in medicine
Genetics in Medicine, 22(1), 124-131. Nature Publishing Group
Genetics in Medicine, 22(1), 124-131. Nature Publishing Group
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e41b20dc4ed1005a167b8080435cdbd
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/298538
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/298538
Autor:
Andy Willaert, Bert Callewaert, Anne De Paepe, Nina De Rocker, Annekatrien Boel, Paul Coucke, Wouter Steyaert, Björn Menten
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-1 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-1 (2018)
Targeted mutagenesis by the CRISPR/Cas9 system is currently revolutionizing genetics. The ease of this technique has enabled genome engineering in-vitro and in a range of model organisms and has pushed experimental dimensions to unprecedented proport
Autor:
Wouter Steyaert, Mohammad Jakir Hosen, Paul Coucke, Georges Leftheriotis, Anne De Paepe, Ludovic Martin, Olivier Vanakker, Filip Van Nieuwerburgh, Dieter Deforce
Publikováno v:
Journal of Investigative Dermatology
Journal of Investigative Dermatology, 2014, Non spécifié. ⟨10.1038/jid.2014.421⟩
The Journal of Investigative Dermatology
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Journal of Investigative Dermatology, 2014, Non spécifié. ⟨10.1038/jid.2014.421⟩
The Journal of Investigative Dermatology
JOURNAL OF INVESTIGATIVE DERMATOLOGY
International audience; The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue disorder, has become increasingly complex as not only mutations in ATP-binding cassette family C member 6 (ABCC6) but also ecto
Autor:
Annelies De Jaegher, Paul Coucke, Steve Lefever, Jan Hellemans, Frauke Coppieters, Jo Vandesompele, Kathleen Claes, Eveline Debals, Machteld Baetens, Brecht Crombez, Kim De Leeneer, Mattias Van Heetvelde, Wouter Steyaert, Elfride De Baere, Inge Vereecke
Publikováno v:
Human Mutation. 36:379-387
The release of benchtop next-generation sequencing (NGS) instruments has paved the way to implement the technology in clinical setting. The need for flexible, qualitative, and cost-efficient workflows is high. We used singleplex-PCR for highly effici
Autor:
K De Leeneer, Tamer Essawi, Paul Coucke, Mohammad A. Farraj, Wouter Steyaert, Osama Essawi, K. De Pauw, A De Paepe, Kathleen Claes
Publikováno v:
Disease Markers, Vol 2015 (2015)
Disease Markers
DISEASE MARKERS
Disease Markers
DISEASE MARKERS
An extensive molecular analysis of the CF transmembrane regulator (CFTR) gene was performed to establish theCFTRmutation spectrum and frequencies in the Palestinian population, which can be considered as an understudied population. We used a targeted
Autor:
Muhammad Salman Chishti, Muhammad Ansar, Suzanne M. Leal, Joshua D. Smith, Wasim Ahmad, Biao Li, Khadim Shah, Izoduwa Abbe, Kwanghyuk Lee, Michael J. Bamshad, Raja Hussain Ali, Paul Coucke, Regie Lyn P. Santos-Cortez, Jay Shendure, Wouter Steyaert, Deborah A. Nickerson
Publikováno v:
BMC MEDICAL GENETICS
BMC Medical Genetics
BMC Medical Genetics
Background: Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but w