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1Academic Journal
المؤلفون: Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2Academic Journal
المؤلفون: Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers
المصدر: PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
وصف الملف: electronic resource
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المؤلفون: Anke Loregger, Lars E. Larsen, Noam Zelcer, Geesje M. Dallinga-Thie, Alinda W. M. Schimmel, Daniel J. Rader, Eva Morava, Jan Albert Kuivenhoven, Lubna Ali, Johannes H.M. Levels, Jeffrey Kroon, Jorge Peter, Marjolein A.W. van den Boogert, Ron A. Wevers, Sacha D. Kuil, Patrick L.W. Chong, Erik S.G. Stroes, Johan G. Schnitzler, Adriaan G. Holleboom, Nicholas J. Hand, Dirk Lefeber, Gerry Steenbergen
المساهمون: Graduate School, ACS - Atherosclerosis & ischemic syndromes, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Global Health, APH - Methodology, APH - Quality of Care, Medical Biochemistry, ACS - Diabetes & metabolism, AGEM - Endocrinology, metabolism and nutrition, Experimental Vascular Medicine, Vascular Medicine, ACS - Microcirculation, AGEM - Digestive immunity, ACS - Pulmonary hypertension & thrombosis, Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Circulation, 140, 4, pp. 280-292
Circulation, 140(4), 280-292. Lippincott Williams and Wilkins
Circulation, 140, 280-292
Circulation, 140(4), 280-292. LIPPINCOTT WILLIAMS & WILKINSمصطلحات موضوعية: Male, medicine.medical_specialty, Glycosylation, glycosylation, hypobetalipoproteinemias, Low density lipoprotein cholesterol, receptors, 030204 cardiovascular system & hematology, CONGENITAL DISORDERS, LDL, MECHANISMS, ACTIVATION, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, N-linked glycosylation, ENDOPLASMIC-RETICULUM STRESS, Physiology (medical), Internal medicine, BINDING, medicine, Humans, Child, Receptor, 030304 developmental biology, 0303 health sciences, Cholesterol, business.industry, MUTATIONS, APOLIPOPROTEIN B100, cholesterol, Lipid metabolism, Cholesterol, LDL, DEGRADATION, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Endocrinology, Receptors, LDL, chemistry, LDL receptor, sterol regulatory element binding protein 2, Female, lipids (amino acids, peptides, and proteins), Sterol regulatory element-binding protein 2, DEFICIENT GLYCOPROTEIN SYNDROME, Cardiology and Cardiovascular Medicine, business, GOLGI HOMEOSTASIS, congenital disorders of glycosylation
وصف الملف: application/pdf
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المؤلفون: Marjolein A.W. van den Boogert, Joost P.H. Drenth, Gerry Steenbergen, Adriaan G. Holleboom, Marie-Cécile Nassogne, Dirk Lefeber, Gert Matthijs, Ulrike Schara, Luísa Diogo, Ron A. Wevers, Sharita Timal, Belén Pérez, Yoshinao Wada, Etienne Sokal, Jaak Jaeken, Peter Krawitz, Martijn A. Huynen, Monique van Scherpenzeel, Lambertus P. van den Heuvel, Patrick Gerner, Celia Medrano, Dorothée Vicogne, Sebahattin Cirak, Eva Morava, Joris A. Veltman, Alexander Hoischen, Daisy Rymen, Geert van den Bogaart, Janine Reunert, Andrea Arnoldy, Thorsten Marquardt, François Foulquier, O. Kaiser, Angel Ashikov, Stephan Rust, Dulce Quelhas, David Cheillan, Celia Pérez-Cerdá, Karin Huijben, Yusuke Maeda, Nathalie Guffon, Jody Salomon, Jos C. Jansen
المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Genetica & Celbiologie, Klinische Genetica, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine, 01 Internal and external specialisms, Graduate School, Vascular Medicine, Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA)
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (2), pp.310-21. ⟨10.1016/j.ajhg.2015.12.010⟩
American Journal of Human Genetics, 98, 2, pp. 310-21
American Journal of Human Genetics, 98(2), 310-321. Cell Press
American journal of human genetics, 98(2), 310-321. Cell Press
American Journal of Human Genetics, 98, 310-21مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], [SDV]Life Sciences [q-bio], Medizin, Golgi Apparatus, Compound heterozygosity, Golgi homeostasis, Endoplasmic Reticulum, chemistry.chemical_compound, 0302 clinical medicine, Missense mutation, Homeostasis, Genetics(clinical), Exome, Cloning, Molecular, Child, Genetics (clinical), Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], COPI, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Pedigree, Phenotype, V-ATPase assembly, Child, Preschool, symbols, Female, alkaline phosphatase, Heterozygote, Molecular Sequence Data, Nerve Tissue Proteins, Biology, Vma22p, Article, Abnormal protein glycosylation, Abnormal glycosylation, 03 medical and health sciences, symbols.namesake, Humans, Amino Acid Sequence, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Infant, Golgi apparatus, Fibroblasts, Molecular biology, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, hepatosplenomegaly, 030217 neurology & neurosurgery, HeLa Cells
وصف الملف: application/pdf
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المؤلفون: Martijn A. Huynen, Laurie A. Graham, Margret Ryan, Ellen Crushell, Kimiyo Raymond, G Dueckers, Jolanta Sykut-Cegielska, Nick H.M. van Bakel, Karin Huijben, Eric J. R. Jansen, Theodore C. Iancu, Dirk Lefeber, Joris A. Veltman, Darius Adams, Hans J. P. M. Koenen, Julia Vodopiutz, Thomas Müller, Eva Morava, Yusuke Maeda, Susanne Greber-Platzer, Gerard J.M. Martens, Tom H. Stevens, Gerry Steenbergen, Tim Niehues, Maciej Adamowicz, Christian Gilissen, Angel Ashikov, Alexander Hoischen, Monique van Scherpenzeel, Ron A. Wevers, Hanna Mandel, Sharita Timal, Richard J. Rodenburg
المساهمون: Genetica & Celbiologie, Klinische Genetica, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Nature Communications
Nature Communications, 7
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications, 7:11600. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Vacuolar Proton-Translocating ATPases, Glycosylation, Adolescent, Science, Mutant, Mutation, Missense, General Physics and Astronomy, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Abnormal protein glycosylation, Hypogammaglobulinemia, 03 medical and health sciences, Young Adult, medicine, Missense mutation, Humans, Cognitive Dysfunction, Amino Acid Sequence, Child, Peptide sequence, Immunodeficiency, Genetics, Family Health, Multidisciplinary, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Sequence Homology, Amino Acid, Liver Diseases, Molecular Animal Physiology, Immunologic Deficiency Syndromes, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Chemistry, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Yeast, 030104 developmental biology, Child, Preschool
وصف الملف: application/pdf; Electronic
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المؤلفون: Sharita Timal, Richard J. Rodenburg, Helen Michelakakis, Mersyni Mavrikou, Marina Moraitou, Karin Huijben, Angel Ashikov, Dirk Lefeber, Jos C. Jansen, Ron A. Wevers, Jody Salomon, Monique van Scherpenzeel, Giovanna Cenacchi, Marjolein A.W. van den Boogert, Martijn A. Huynen, Pier Luigi Calvo, Joris A. Veltman, Francesco Porta, François Foulquier, Adriaan G. Holleboom, Dorothée Vicogne, Alexander Hoischen, Eva Morava, Joost P.H. Drenth, Gerry Steenbergen, Geert van den Bogaart
المساهمون: 01 Internal and external specialisms, Graduate School, Vascular Medicine, DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE, Genetica & Celbiologie, Klinische Genetica, RS: GROW - School for Oncology and Reproduction, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: American Journal of Human Genetics, 98, 322-30
American journal of human genetics, 98(2), 322-330. Cell Press
American Journal of Human Genetics, 98(2), 322-330. Cell Press
American Journal of Human Genetics, 98, 2, pp. 322-30مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Golgi Apparatus, Golgi homeostasis, Endoplasmic Reticulum, chemistry.chemical_compound, 0302 clinical medicine, Congenital Disorders of Glycosylation, Homeostasis, Exome, Genetics(clinical), Genetics (clinical), hypercholesterolemia, TMEM199 deficiency, Ceruloplasmin, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], COPI, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cholesterol, Phenotype, Biochemistry, COPI vesicular transport, V-ATPase assembly, symbols, Alkaline phosphatase, Vph2p, Adult, Genotype, alkaline phosphatase, elevated aminotransferases, Molecular Sequence Data, Biology, Abnormal glycosylation, 03 medical and health sciences, symbols.namesake, Young Adult, Alkaline Phosphatase, Amino Acid Sequence, Fibroblasts, Humans, Membrane Proteins, Mutation, Transaminases, Genetics, Report, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Golgi apparatus, Sialic acid, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, chemistry, Membrane protein, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المصدر: Translational Research, 166, 639-649.e1
Translational Research, 166, 6, pp. 639-649.e1مصطلحات موضوعية: chemistry.chemical_classification, Glycan, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Resolution (mass spectrometry), biology, Isoelectric focusing, Biochemistry (medical), Public Health, Environmental and Occupational Health, Transferrin, DPAGT1, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Mass Spectrometry, Abnormal glycosylation, chemistry.chemical_compound, Congenital Disorders of Glycosylation, chemistry, Biochemistry, Physiology (medical), biology.protein, Humans, Time-of-flight mass spectrometry
وصف الملف: application/pdf
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المؤلفون: Karin Huijben, Birgit Absmanner, Avraham Lorber, Martin Lammens, Janneke H M Schuurs-Hoeijmakers, Livia Kapusta, Hans van Bokhoven, Ron A. Wevers, Ludwig Lehle, Nili Zucker, Hanna Mandel, Stephanie Grunewald, Jeroen van Reeuwijk, Arjan P.M. de Brouwer, Gerry Steenbergen, Adam Jozwiak, Kiek Verrijp, Willem M.R. van den Akker, Dirk J. Lefeber, Eva Morava, Moniek Riemersma, Carlos Knopf
المصدر: PLoS Genetics
PLoS Genetics, Vol 7, Iss 12, p e1002427 (2011)
Plos Genetics, 7, 12, pp. e1002427-e1002427
Plos Genetics, 7, e1002427-e1002427مصطلحات موضوعية: Male, Cancer Research, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Cardiomyopathy, Gene Expression, Neuroinformatics [DCN 3], Pediatrics, Sudden cardiac death, Sarcolemma, Autosomal Recessive, Pediatric Cardiology, 570 Biowissenschaften, Biologie, Child, Dystroglycans, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Dolichol Phosphates, Genetics, Homozygote, Dilated cardiomyopathy, Functional imaging [IGMD 1], Disease gene identification, musculoskeletal system, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Child, Preschool, Medicine, Female, lipids (amino acids, peptides, and proteins), ddc:570, Research Article, Cardiomyopathy, Dilated, medicine.medical_specialty, Translational research Renal disorder [ONCOL 3], lcsh:QH426-470, Adolescent, Dolichol Kinase Deficiency, Genes, Recessive, Saccharomyces cerevisiae, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnostic Medicine, Internal medicine, medicine, Dystroglycan, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Dolichol kinase, Functional Neurogenomics Renal disorder [DCN 2], Clinical Genetics, Haplotype, Glycostation disorders [IGMD 4], medicine.disease, carbohydrates (lipids), lcsh:Genetics, Endocrinology, Haplotypes, Metabolic Disorders, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], biology.protein, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
وصف الملف: application/pdf; Print-Electronic
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المؤلفون: Nenad Blau, Ron A. Wevers, Gerry Steenbergen, A. Schiller, Hans H. Jung
المصدر: Neurology. 63(8)
مصطلحات موضوعية: Dopa-Responsive Dystonia, Adult, Male, medicine.medical_specialty, Levodopa, Heterozygote, Tyrosine 3-Monooxygenase, DNA Mutational Analysis, Dopamine Agents, Compound heterozygosity, medicine.disease_cause, Time, Catecholamines, Internal medicine, medicine, Humans, Point Mutation, Longitudinal Studies, Age of Onset, Dystonia, Brain Chemistry, Mutation, Tyrosine hydroxylase, business.industry, Siblings, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, Endocrinology, Catecholamine, Disease Progression, Panic Disorder, Neurology (clinical), business, medicine.drug
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المؤلفون: O. P. van Diggelen, Joaquín Arenas, Alberto Blázquez, Antonio L. Andreu, B.G.M. van Engelen, Juan C. Rubio, Gerry Steenbergen, M. de Visser, M. A. Martín, C.E.M. de Die-Smulders, Ron A. Wevers
المساهمون: Neurology, Clinical Genetics, Radiology & Nuclear Medicine
المصدر: Annals of human genetics, 68(Part 1), 17-22. Wiley-Blackwell
Annals of Human Genetics, 68, 17-22
Annals of Human Genetics, 68, Pt 1, pp. 17-22
Annals of Human Genetics, 68, 17-22. Wiley-Blackwell Publishing Ltdمصطلحات موضوعية: Male, Population, Nonsense mutation, Disease, Biology, Frameshift mutation, Genetic Heterogeneity, Genetics, Humans, Missense mutation, education, Genetics (clinical), DNA Primers, Netherlands, education.field_of_study, Base Sequence, Genetic heterogeneity, Neuromuscular development and genetic disorders [UMCN 3.1], Genetic defects of metabolism [UMCN 5.1], Myophosphorylase, Mutation, Mutation (genetic algorithm), Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Female
وصف الملف: application/pdf
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المؤلفون: Aad Verrips, Baziel G.M. van Engelen, Joop P. Theelen, Fons J. M. Gabreëls, Lies H. Hoefsloot, Gerry Steenbergen, Lambert P. van den Heuvel, Ron A. Wevers
المصدر: Brain, 123, 908-919
Brain, 123, pp. 908-919مصطلحات موضوعية: Adult, Male, China, Tunisia, Adolescent, Cerebrotendineuze xanthomatosis (CTX), Clinical description and delineation of genetic syndromes, Inborn errors of metabolism, Gene mutation, Biology, medicine.disease_cause, Compound heterozygosity, Cerebrotendinous Xanthomatosis, Exon, Cytochrome P-450 Enzyme System, Genotype, medicine, Ethnicity, Humans, Point Mutation, Allele, Age of Onset, Child, Erfelijke stofwisselingsziekten, Gene, Klinische beschrijving en moleculaire definiëring van genetische syndromen, Netherlands, Sequence Deletion, Genetics, Mutation, Brain, Exons, Xanthomatosis, Cerebrotendinous, Magnetic Resonance Imaging, Europe, Amino Acid Substitution, Steroid Hydroxylases, Cholestanetriol 26-Monooxygenase, Female, Cerebrotendinous xanthomatosis (CTX), Neurology (clinical)
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المؤلفون: Jeroen Luyten, Gerry Steenbergen, H. T. F. M. Verzijl, George W. Padberg, Ron A. Wevers, L.P.W.J. van den Heuvel, H.J. ter Laak, B.G.M. van Engelen
المصدر: Annals of Neurology, 44, 140-143
Annals of Neurology, 44, 1, pp. 140-143مصطلحات موضوعية: animal structures, Biopsy, Population, Biology, Polymerase Chain Reaction, Genetic determinism, AMP Deaminase, Genetische en metabole aspecten van neuromusculaire aandoeningen, Humans, Point Mutation, In patient, Allele, Muscle, Skeletal, education, Genetical and metabolic aspects of neuromuscular diseases, education.field_of_study, Chi-Square Distribution, Base Sequence, Point mutation, Genetic variants, AMP deaminase, DNA, Neuromuscular Diseases, humanities, Neurology, Dutch Population, Immunology, Exercise Test, Neurology (clinical)
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