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Onderzoeker
Sofie Symoens
- Disciplines:Epigenetica, Klinische genetica en moleculaire diagnostiek, Immunogenetica, Genetica
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 apr 2001 → 30 sep 2018
Publicaties
21 - 26 van 26
- Dermatosparaxis (EhlersU+2013Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery(2013)
Auteurs: Joyce Solomons, Paul Coucke, Sofie Symoens, Marta C Cohen, F Michael Pope, Bart E Wagner, Glenda Sobey, Rebecca Black, Deirdre Cilliers
Pagina's: 1122 - 1125 - Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome(2013)
Auteurs: Aideen M Mclnerney-Leo, Mhairi S Marshall, Brooke Gardiner, Paul Coucke, Lut Van Laer, Bart L Loeys, Kim M Summers, Sofie Symoens, Jennifer A West, Malcolm J West, et al.
- Study of the role of type V collagen in heritable connective tissue diseases(2012)
Auteurs: Sofie Symoens
- Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome(2010)
Auteurs: Elke Verstraeten, Sofie Symoens, Marjolijn Renard, Bert Callewaert, K Vandekerckhove, Julie De Backer, Fransiska Malfait, L Marks, Paul Coucke, Anne De Paepe, et al.
Pagina's: 119 - 122 - A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta(2008)Volume: 58
Auteurs: Fransiska Malfait, Andy Willaert, Sofie Symoens, Paul Coucke, Anne De Paepe
Pagina's: S223 - S223 - A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta(2008)Volume: 23
Auteurs: Andy Willaert, Sofie Symoens, Fransiska Malfait, Kris Gevaert, Paul Coucke, Anne De Paepe
Pagina's: S294 - S294