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Journal of Inherited Metabolic Disease|January 24, 2023
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypesS De Feyter, A Beyens, B Callewaert
Disasters|October 21, 2010
Migrations and nutritional status in the sahelP Autier, J P D'Altilia, B Callewaert, et al.
Gait & Posture|July 4, 2012
Joint kinematics following bi-compartmental knee replacement during daily life motor tasksJ Leffler, L Scheys, T Planté-Bordeneuve, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 1, 2017
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spacesP F Sinnige, C M A van Ravenswaaij-Arts, P Caruso, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationL Faivre, G Collod-Beroud, B Callewaert, et al.
Genome Medicine|December 31, 2024
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panelA Drackley, C Somerville, P Arnaud, et al.
American Journal of Human Genetics|August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre, G Collod-Beroud, B L Loeys, et al.
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