المؤلفون: Björn Fischer, Aikaterini Dimopoulou, Uwe Kornak, Eva Morava, Maïlys Guillard, Dirk J. Lefeber, Ron A. Wevers

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1792, 903-14
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1792, 9, pp. 903-14

مصطلحات موضوعية: Models, Molecular, Vacuolar Proton-Translocating ATPases, Glycosylation, Energy and redox metabolism [NCMLS 4], Occipital horn syndrome, OMIM 219200, V-ATPase, Genes, Recessive, Biology, Cutis Laxa, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Congenital Disorders of Glycosylation, Apolipoprotein C III, medicine, Animals, Humans, Molecular Biology, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Apolipoprotein C-III, Cell Membrane, Transferrin, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, 3. Good health, Protein Subunits, Proton-Translocating ATPases, chemistry, Molecular Medicine, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Cutis laxa, Subcellular Fractions

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c81bb80275980e7ddd9dc08e12b9f6caTest
https://doi.org/10.1016/j.bbadis.2008.12.009Test

المؤلفون: Eva Morava, Dirk J. Lefeber, Maïlys Guillard, Ron A. Wevers

المصدر: European Journal of Human Genetics, 17, 1099-110
European Journal of Human Genetics, 17, 9, pp. 1099-110

مصطلحات موضوعية: Genetics, Systemic disease, Mutation, Energy and redox metabolism [NCMLS 4], Glycostation disorders [IGMD 4], Biology, medicine.disease, medicine.disease_cause, Gerodermia osteodysplastica, Fibulin, medicine, biology.protein, De Barsy syndrome, Functional Neurogenomics [DCN 2], Elastin, Genetics (clinical), Wrinkly skin syndrome, Cutis laxa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee90da14bc0aff8ac2566392f7c655a4Test
https://hdl.handle.net/2066/80393Test

المؤلفون: Elaine C. Davis, Gabriele Gillessen-Kaesbach, Stefan Mundlos, Jumana Y. Al-Aama, Mustafa Tekin, Björn Fischer, Seval Türkmen, Lionel Van Maldergem, Lina Basel-Vanagaite, Dirk Lefeber, Zsolt Urban, Beyhan Tüysüz, Jiwon Choi, Annika Aldinger, Ron A. Wevers, Eva Morava, Aikaterini Dimopoulou, Bridget A. Fernandez, Hülya Kayserili, Marie T. Greally, Vishwanathan Hucthagowder, Dianne N. Abuelo, Emmanuelle Lemyre, Maciej Adamowicz, Berrin Yüksel-Konuk, Uwe Kornak

المصدر: Human Molecular Genetics, 18, 2149-65
Human Molecular Genetics, 18, 12, pp. 2149-65

مصطلحات موضوعية: Male, Energy and redox metabolism [NCMLS 4], Cell Survival, Molecular Sequence Data, Golgi Apparatus, Apoptosis, Biology, medicine.disease_cause, Cutis Laxa, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Tropoelastin, Genetics, medicine, Extracellular, Perception and Action [DCN 1], Humans, Secretion, Amino Acid Sequence, Molecular Biology, Genetics (clinical), Cells, Cultured, 030304 developmental biology, 0303 health sciences, Mutation, Cytoplasmic Vesicles, Infant, General Medicine, Articles, Golgi apparatus, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Molecular biology, Protein Transport, Proton-Translocating ATPases, Child, Preschool, symbols, biology.protein, Female, Elastin, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Intracellular, Cutis laxa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5b6cbe42b080451675843956269138Test
https://pubmed.ncbi.nlm.nih.gov/19321599Test

المؤلفون: Zsolt Urban, Ron A. Wevers, Cees Noordam, Nine V A M Knoers, Eva Morava, Simone Funke, Petr E. Jira

المصدر: Acta Paediatrica, 98, 3, pp. 490-4
Acta Paediatrica, 98, 490-4

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Systemic disease, Bone disease, Bone density, Energy and redox metabolism [NCMLS 4], Skeletal survey, Osteoporosis, Membrane transport and intracellular motility [NCMLS 5], Genes, Recessive, Gerodermia osteodysplastica, Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], Bone Density, medicine, Humans, Prospective Studies, Psychomotor retardation, Diphosphonates, business.industry, Hormonal regulation [IGMD 6], Infant, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Dermatology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Bone Diseases, business, Functional Neurogenomics [DCN 2], Cutis laxa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82656dbdc087a1c35c7b741240488020Test
https://hdl.handle.net/2066/80004Test

المؤلفون: E. Reynders, Dirk Lefeber, Birgit Budde, Marie T. Greally, Anna Rajab, Eva Seemanova, Memmune Yuksel-Apak, Gert Matthijs, Elisa Leão-Teles, Eva Morava, Laura Vilarinho, William B. Dobyns, Lina Basel-Vanagaite, Jeroen van Reeuwijk, Arti Nanda, Marc Larregue, Lionel Van Maldergem, Zsolt Urban, Ron A. Wevers, Jacqueline Vigneron, Han G. Brunner, Dulce Quelhas, Hans van Bokhoven, Sanda Giurgea, Wim Annaert, Martina Simandlova, Stefan Mundlos, Peter Nürnberg, Aikaterini Dimopoulou, Mustafa A. Salih, François Foulquier, Hülya Kayserili, Bjoern Fischer, Stephanie Gruenewald, Uwe Kornak

المصدر: Nature Genetics, 40, 1, pp. 32-4
Nature Genetics, 40, 32-4

مصطلحات موضوعية: Male, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Golgi Apparatus, Biology, Neuroinformatics [DCN 3], medicine.disease_cause, Gerodermia osteodysplastica, Cutis Laxa, Abnormal glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, symbols.namesake, Genetics, medicine, Perception and Action [DCN 1], Humans, Mutation, Infant, Golgi apparatus, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Proton-Translocating ATPases, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], symbols, De Barsy syndrome, Female, Functional Neurogenomics [DCN 2], Wrinkly skin syndrome, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0984520a74a1ec60520952e911f0a51Test
https://hdl.handle.net/2066/69837Test

المؤلفون: Jan A.M. Smeitink, Stephanie Grunewald, Eva Morava, G Gillessen-Kaesbach, Paul Coucke, Suzan Wopereis, Ron A. Wevers, Thomas Voit

المصدر: European Journal of Human Genetics, 13, 414-21
European Journal of Human Genetics, 13, 4, pp. 414-21

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Glycosylation, Energy and redox metabolism [NCMLS 4], Medizin, Consanguinity, Neuroinformatics [DCN 3], Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], Extracellular matrix, chemistry.chemical_compound, N-linked glycosylation, Polysaccharides, Perception and Action [DCN 1], Genetics, medicine, Humans, Apolipoproteins C, Genetics (clinical), Extracellular Matrix Proteins, biology, Genetic heterogeneity, Infant, Newborn, Transferrin, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Recombinant Proteins, Pedigree, carbohydrates (lipids), Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], chemistry, FBLN5, Child, Preschool, Mutation, biology.protein, Female, Isoelectric Focusing, Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2], Elastin, Cutis laxa, Carbohydrate Metabolism, Inborn Errors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500fa344618f1cb1656b86d70dc26b66Test
https://pubmed.ncbi.nlm.nih.gov/15657616Test