المؤلفون: Karin Huijben, Michèl A.A.P. Willemsen, Marina Moraitou, Elissavet Georgiadou, Mohammad Alsady, Walinka van Tol, Dirk Lefeber, Peter Van den Bergh, Helen Michelakakis, Constantinos Papadopoulos, George K. Papadimas

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Journal of Inherited Metabolic Disease, 42, 5, pp. 984-992
Journal of inherited metabolic disease, Vol. 42, no. 5, p. 984-992 (2019)
Journal of Inherited Metabolic Disease, 42, 984-992

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Biopsy, Biology, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Dolichol, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, Western blot, Internal medicine, dystroglycanopathy, Genetics, medicine, Humans, Disorders of movement Radboud Institute for Molecular Life Sciences [Radboudumc 3], Child, Dystroglycans, Muscle, Skeletal, Genetics (clinical), chemistry.chemical_classification, medicine.diagnostic_test, Genetic heterogeneity, Skeletal muscle, Membrane Proteins, DPM3-CDG, Metabolism, dolichol-phosphate-mannose, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, carbohydrates (lipids), medicine.anatomical_structure, Endocrinology, chemistry, Transferrin, tissue-specific glycosylation, Mutation, Female, lipids (amino acids, peptides, and proteins), congenital disorders of glycosylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fae4ebf7eae1f1bd0b7a24d34ee92a6Test
https://doi.org/10.1002/jimd.12095Test

المؤلفون: Thibaut Leemrijse, Antoine de Gheldere, Paolo Simoni, Frédéric Lecouvet, Jacques Malghem, Bruno Vande Berg, Peter Van den Bergh, Christine Galant, Patrick Omoumi

المصدر: Skeletal Radiology. 39:381-386

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Tarsal Joints, Subtalar joint, parasitic diseases, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Cyst, Tarsal tunnel, Arthrography, Ganglion Cysts, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Tarsal Joint, Anatomy, Tarsal tunnel syndrome, Middle Aged, medicine.disease, Radiographic Image Enhancement, body regions, Ganglion cyst, medicine.anatomical_structure, sense organs, Radiology, Tomography, Tomography, X-Ray Computed, business, Tarsal Tunnel Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90261229c295e4a62661072f005d3b79Test
https://doi.org/10.1007/s00256-009-0864-xTest

المؤلفون: Peter Van den Bergh, Sabrina Sacconi, Andreas Ferbert, Matthias Vorgerd, Markus Bergmann, Jörg B. Schulz, Joachim Weis, Jean-Jacques Martin, Marcus Deschauer, J Elisa Bach, Peter De Jonghe, Jan Bürmann, Wolfram Kress, Kristl G. Claeys, Eva Neuen-Jacob, J. Michael Schröder, Anna-Lena Semmler, Rudolf A. Kley, Claus Liebe, Roland Anderheiden, Oliver J. Müller

المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9

مصطلحات موضوعية: Male, Pathology, bcl-2 associated athanogene protein 3, 610 Medical sciences Medicine, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), FLNC, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Pedigree, 3. Good health, Mutation (genetic algorithm), Female, Protein aggregation, Polyneuropathy, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, Adolescent, Next generation sequencing, Biology, MFM, Hearing impairment, Young Adult, 03 medical and health sciences, medicine, Humans, ddc:610, Muscle, Skeletal, Gene, Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, Nerve biopsy, Genetic heterogeneity, Research, medicine.disease, Human genetics, Mutation, Human medicine, Apoptosis Regulatory Proteins, 030217 neurology & neurosurgery

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb47c88657f1d9f8b9fc70a4ba9888e7Test
https://hal.archives-ouvertes.fr/hal-01117408Test

المؤلفون: Renaud Lhommel, Peter Van den Bergh, Frédéric Lecouvet, Grégoire Wieërs, Michel Lambert

المساهمون: UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - (SLuc) Centre du cancer, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de médecine nucléaire, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service des urgences, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Service de médecine interne générale

المصدر: The Lancet, Vol. 380, no. 9856, p. 1859 (2012)

مصطلحات موضوعية: Multimodal imaging, Adult, Male, Positron-Emission Tomography and Computed Tomography, medicine.diagnostic_test, Sarcoidosis, Tiger, business.industry, Magnetic resonance imaging, General Medicine, Multimodal Imaging, Magnetic Resonance Imaging, Nuclear magnetic resonance, Muscular Diseases, X ray computed, Positron emission tomography, Positron-Emission Tomography, Medicine, Humans, Tomography, business, Tomography, X-Ray Computed, Artifacts

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e4096ae3c0c30f7bab4eb745915359Test
https://hdl.handle.net/2078.1/126113Test