Bilaketaren emaitzak - Malfait, Fransiska

Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome nork Omar, Ramla, Malfait, Fransiska, Van Agtmael, Tom

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Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) nork Wiesmann, Thomas, Castori, Marco, Malfait, Fransiska, Wulf, Hinnerk

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Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review nork D'hondt, Sanne, Van Damme, Tim, Malfait, Fransiska

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The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism nork Van Damme, Tim, Colman, Marlies, Syx, Delfien, Malfait, Fransiska

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Editorial: Molecular Mechanisms of Heritable Connective Tissue Disorders nork Malfait, Fransiska, Forlino, Antonella, Sengle, Gerhard, Van Agtmael, Tom

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Loss of TANGO1 Leads to Absence of Bone Mineralization nork Guillemyn, Brecht, Nampoothiri, Sheela, Syx, Delfien, Malfait, Fransiska, Symoens, Sofie

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Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential nork Vroman, Robin, Malfait, Anne-Marie, Miller, Rachel E., Malfait, Fransiska, Syx, Delfien

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A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement nork Symoens, Sofie, Malfait, Fransiska, Vlummens, Philip, Hermanns-Lê, Trinh, Syx, Delfien, De Paepe, Anne

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Hearing impairment in Stickler syndrome: a systematic review nork Acke, Frederic R E, Dhooge, Ingeborg J M, Malfait, Fransiska, De Leenheer, Els M R

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Clinical utility gene card for: osteogenesis imperfecta nork van Dijk, Fleur S, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rusinska, Agnieszka, Semler, Oliver, Symoens, Sofie, Pals, Gerard

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Muscle Strength, Muscle Mass and Physical Impairment in Women with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorder nork Coussens, Marie, Lapauw, Bruno, Banica, Thiberiu, Wandele, Inge De, Pacey, Verity, Rombaut, Lies, Malfait, Fransiska, Calders, Patrick

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The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review nork Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska

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Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controls nork De Baets, Stijn, Cruyt, Ellen, Calders, Patrick, Dewandele, Inge, Malfait, Fransiska, Vanderstraeten, Guy, Van Hove, Geert, van De Velde, Dominique

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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta nork van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard

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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome nork Malfait, Fransiska, Symoens, Sofie, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, López-González, Vanesa, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, De Paepe, Anne

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Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome nork Syx, Delfien, Miller, Rachel E., Obeidat, Alia M., Tran, Phuong B., Vroman, Robin, Malfait, Zoë, Miller, Richard J., Malfait, Fransiska, Malfait, Anne-Marie

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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans nork Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J

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Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families nork Essawi, Osama, Symoens, Sofie, Fannana, Maha, Darwish, Mohammad, Farraj, Mohammad, Willaert, Andy, Essawi, Tamer, Callewaert, Bert, De Paepe, Anne, Malfait, Fransiska, Coucke, Paul J.

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Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical deter... nork Kappanayil, Mahesh, Nampoothiri, Sheela, Kannan, Rajesh, Renard, Marjolijn, Coucke, Paul, Malfait, Fransiska, Menon, Swapna, Ravindran, Hiran K, Kurup, Renu, Faiyaz-Ul-Haque, Muhammad, Kumar, Krishna, De Paepe, Anne

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Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay nork Baert, Annelot, Depuydt, Julie, Van Maerken, Tom, Poppe, Bruce, Malfait, Fransiska, Van Damme, Tim, De Nobele, Sylvia, Perletti, Gianpaolo, De Leeneer, Kim, Claes, Kathleen B.M., Vral, Anne

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