Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Wouter Steyaert"'
Autor:
Bert Callewaert, Wouter Steyaert, Katrien Bonte, Daniël De Wolf, Joseph Panzer, Ilse Meerschaut, Riet De Rycke, Frank Plasschaert, Tine De Backer, Sandra Janssens, Aude Beyens
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc4e6b9f01368e235483286f6df1f02
https://hdl.handle.net/20.500.14017/189a2f94-6585-472c-b6d8-ed7b0ea590f1
https://hdl.handle.net/20.500.14017/189a2f94-6585-472c-b6d8-ed7b0ea590f1
Autor:
Laura, Muiño-Mosquera, Felke, Steijns, Tjorven, Audenaert, Ilse, Meerschaut, Anne, De Paepe, Wouter, Steyaert, Sofie, Symoens, Paul, Coucke, Bert, Callewaert, Marjolijn, Renard, Julie, De Backer
Publikováno v:
Circulation. Genomic and precision medicine. 11(6)
The introduction of next-generation sequencing techniques has substantially increased the identification of new genetic variants and hence the necessity of accurate variant interpretation. In 2015, the American College of Medical Genetics and Genomic
Autor:
Wouter Steyaert, Tim Van Damme, Bart Dermaut, Paul Coucke, Patrick Santens, Anne De Paepe, Andy Willaert, Bernard Sablonnière
Publikováno v:
Neurology. 84:1760-1766
Objective: To identify the genetic cause in 2 Belgian families with autosomal recessive Huntington-like disorder (HDL). Methods: Homozygosity mapping and whole-exome sequencing in a consanguineous family as well as Sanger sequencing of the candidate
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
Publikováno v:
Disease Markers, Vol 2015 (2015)
DISEASE MARKERS
Disease Markers
DISEASE MARKERS
Disease Markers
Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a famili
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