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Researcher
Laurent Pasquier
- Disciplines:Bioethics
Affiliations
- Interfaculty Centre for Biomedical Ethics and Law (Research institute)
Member
From1 Aug 2020 → 31 Jul 2021
Publications
1 - 7 of 7
- How do non-geneticist physicians deal with genetic tests? A qualitative analysis(2021)
Authors: Laurent Pasquier
Pages: 320 - 331 - Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype(2021)
Authors: Laurent Pasquier
Pages: 732 - 739 - Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing(2020)
Authors: Auriane Cospain, Christele Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, et al.
- Searching for secondary findings: considering actionability and preserving the right not to know(2019)
Authors: Laurent Pasquier, Danya Vears
Pages: 1481 - 1484 - Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia(2018)
Authors: Hannah Stamberger, Hilde Van Esch, Annick Vogels, Wim Van Paesschen, Laurent Pasquier
Pages: 744 - 759 - Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features(2018)
Authors: Laurent Pasquier, Hilde Van Esch
Pages: 359 - 371 - Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.
Authors: Laurent Pasquier
Pages: 101562