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British Medical Bulletin|February 12, 2020
Challenges in molecular diagnosis of X-linked Intellectual disabilityChiara De Luca, Valérie Race, Liesbeth Keldermans, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|June 23, 2021
MAN1B1-CDG: novel patients and novel variantCigdem Seher Kasapkara, Asburce Olgac, Mustafa Kilic, et al.Glycobiology|May 20, 2009
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patientWendy Vleugels, Liesbeth Keldermans, Jaak Jaeken, et al.Molecular Genetics and Metabolism Reports|February 8, 2021
SLC35A2-CDG: Novel variant and reviewDulce Quelhas, Joana Correia, Jaak Jaeken, et al.Molecular Genetics and Metabolism|February 20, 2007
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patientsEls Schollen, Liesbeth Keldermans, François Foulquier, et al.Developmental Medicine and Child Neurology|May 14, 2016
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancyCarmen Barba, Francesca Darra, Raffaella Cusmai, et al.Birth Defects Research|January 24, 2022
COG6-CDG: Novel variants and novel malformationLara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, et al.European Journal of Neurology|September 1, 2021
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvementSien H Van Daele, Matthieu Moisse, Valérie Race, et al.JIMD Reports|March 2, 2017
Galactose Epimerase Deficiency: Expanding the PhenotypeFilipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, et al.Orphanet Journal of Rare Diseases|December 12, 2012
COG5-CDG: expanding the clinical spectrumDaisy Rymen, Liesbeth Keldermans, Valérie Race, et al.Pageof 2