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1دورية أكاديمية
المؤلفون: Mahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, Tim Van Damme, Olivier Kaye, Delfien Syx, Fransiska Malfait, Göran Larson
المصدر: JIMD Reports, Vol 63, Iss 5, Pp 462-467 (2022)
مصطلحات موضوعية: bikunin, Ehlers–Danlos syndrome, glycopeptides, glycoproteomics, glycosaminoglycan linkage region, linkeropathies, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية أكاديمية
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3دورية أكاديمية
المؤلفون: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Connective tissue, Glycosaminoglycans, GAG Linkeropathies, B3GAT3, Genotype, Phenotype, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Sarah Delbaere, Adelbert De Clercq, Shuji Mizumoto, Fredrik Noborn, Jan Willem Bek, Lien Alluyn, Charlotte Gistelinck, Delfien Syx, Phil L. Salmon, Paul J. Coucke, Göran Larson, Shuhei Yamada, Andy Willaert, Fransiska Malfait
المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)
مصطلحات موضوعية: b3galt6, zebrafish, trisaccharide linkage region, proteoglycans, linkeropathies, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المصدر: Genes, Vol 12, Iss 11, p 1654 (2021)
مصطلحات موضوعية: bikunin, CDG, linkeropathies, GAG, proteoglycans, skeletal dysplasia, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Colman, MarliesAff1, Van Damme, TimAff1, Steichen-Gersdorf, ElisabethAff2, Laccone, FrancoAff3, Nampoothiri, SheelaAff4, Syx, DelfienAff1, Guillemyn, BrechtAff1, Symoens, SofieAff1, Malfait, FransiskaAff1
المصدر: Orphanet Journal of Rare Diseases. 14(1)
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7دورية أكاديمية
المؤلفون: Marco Ritelli, Valeria Cinquina, Edoardo Giacopuzzi, Marina Venturini, Nicola Chiarelli, Marina Colombi
المصدر: Genes, Vol 10, Iss 9, p 631 (2019)
مصطلحات موضوعية: linkeropathies, B3GAT3, Larsen-like syndrome, B4GALT7, B3GALT6, spondylodysplastic Ehlers-Danlos syndrome, XYLT1, XYLT2, Desbuquois dysplasia, spondylo-ocular syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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8كتاب
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المؤلفون: Shuji Mizumoto, Delfien Syx, Charlotte Gistelinck, Andy Willaert, Fransiska Malfait, Fredrik Noborn, Paul Coucke, Göran Larson, Shuhei Yamada, Jan Willem Bek, Adelbert De Clercq, Sarah Delbaere, Lien Alluyn, Phil Salmon
المساهمون: Bianchet, Mario Antonio
المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Frontiers in Cell and Developmental Biology
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGYمصطلحات موضوعية: EXPRESSION, trisaccharide linkage region, Eherls-Danlos syndrome, SWIMMING PERFORMANCE, linkeropathies, Context (language use), PHENOTYPE, Extracellular matrix, Glycosaminoglycan, Collagen fibril organization, chemistry.chemical_compound, Cell and Developmental Biology, CHONDROITIN SULFATE, Chondroitin sulfate, Zebrafish, lcsh:QH301-705.5, Original Research, HEPARAN-SULFATE, MOLECULAR-CLONING, BONE MATERIAL PROPERTIES, IDENTIFICATION, biology, GALACTOSYLTRANSFERASE-II, Biology and Life Sciences, modeling, Cell Biology, Heparan sulfate, biology.organism_classification, zebrafish, COLLAGEN, Cell biology, b3galt6, chemistry, Proteoglycan, lcsh:Biology (General), linkage region, biology.protein, proteoglycans, Developmental Biology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01638d55070ffe932159be49bdbaf57a
https://www.frontiersin.org/articles/10.3389/fcell.2020.597857/full -
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المؤلفون: Edoardo Giacopuzzi, Valeria Cinquina, Marina Venturini, Marco Ritelli, Nicola Chiarelli, Marina Colombi
المصدر: Genes
Volume 10
Issue 9
Genes, Vol 10, Iss 9, p 631 (2019)مصطلحات موضوعية: 0301 basic medicine, Nosology, lcsh:QH426-470, Adolescent, Heart malformation, spondylodysplastic Ehlers-Danlos syndrome, spondylo-ocular syndrome, linkeropathies, Dwarfism, B4GALT7, 030105 genetics & heredity, Biology, Compound heterozygosity, Osteochondrodysplasias, Short stature, Gerodermia osteodysplastica, Article, XYLT2, Marfan Syndrome, 03 medical and health sciences, Craniosynostoses, Desbuquois dysplasia, B3GAT3, Genetics, medicine, Humans, Glucuronosyltransferase, Genetics (clinical), B3GALT6, Larsen-like syndrome, Linkeropathies, Spondylo-ocular syndrome, Spondylodysplastic Ehlers-Danlos syndrome, XYLT1, Skin Diseases, Genetic, medicine.disease, Phenotype, lcsh:Genetics, Arachnodactyly, 030104 developmental biology, Dysplasia, Mutation, Female, medicine.symptom, Bone Diseases, Antley-Bixler Syndrome Phenotype
وصف الملف: application/pdf