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1دورية أكاديمية
المؤلفون: Alessia Casamassa, Alessandra Zanetti, Daniela Ferrari, Ivan Lombardi, Gaia Galluzzi, Francesca D'Avanzo, Gabriella Cipressa, Alessia Bertozzi, Isabella Torrente, Angelo Luigi Vescovi, Rosella Tomanin, Jessica Rosati
المصدر: Stem Cell Research, Vol 63, Iss , Pp 102846- (2022)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Francesca D’Avanzo, Alessandra Zanetti, Andrea Dardis, Maurizio Scarpa, Nicola Volpi, Francesco Gatto, Rosella Tomanin
المصدر: Biomolecules, Vol 13, Iss 3, p 532 (2023)
مصطلحات موضوعية: mucopolysaccharidoses, diagnosis, mass spectrometry, glycosaminoglycans, urine, GAGome, Microbiology, QR1-502
وصف الملف: electronic resource
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3دورية أكاديمية
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 24, p 13456 (2021)
مصطلحات موضوعية: lysosomal storage disorder, mucopolysaccharidosis type VI, Maroteaux–Lamy syndrome, dermatan sulfate, chondroitin 4-sulfate, ARSB, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Loris Bertoldi, Claudio Forcato, Nicola Vitulo, Giovanni Birolo, Fabio De Pascale, Erika Feltrin, Riccardo Schiavon, Franca Anglani, Susanna Negrisolo, Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin, Georgine Faulkner, Alessandro Vezzi, Giorgio Valle
المصدر: BMC Bioinformatics, Vol 18, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Variant prioritization, Exome sequencing, Variant annotation, Data integration, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Francesca D’Avanzo, Laura Rigon, Alessandra Zanetti, Rosella Tomanin
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 4, p 1258 (2020)
مصطلحات موضوعية: mucopolysaccharidosis type ii, hunter syndrome, lysosomal storage disorders, x-linked trait, glycosaminoglycans, diagnosis, therapy, pathogenesis, animal model, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6
المؤلفون: Moeenaldeen Al-Sayed, Yin-Hsiu Chien, Francesca D’Avanzo, Rodolfo Tonin, Hsiang-Yu Lin, Akashdeep Singh, Emanuela Izzo, Ana Carolina Brusius-Facchin, Alessandra Zanetti, Laura Pollard, David C Kasper, Roberto Giugliani, Shuan-Pei Lin, Rosella Tomanin, Tim Wood, Amelia Morrone
المصدر: Human Mutation. 42:1384-1398
مصطلحات موضوعية: Genetics, Newborn screening, Genetic counseling, Mucopolysaccharidosis, Mucopolysaccharidosis IV, Biology, Compound heterozygosity, medicine.disease, Chondroitinsulfatases, Frameshift mutation, Mutation, medicine, Humans, Missense mutation, Allele, Gene, Genetic Association Studies, Genetics (clinical)
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7
المؤلفون: Francesca Maccari, Laura Rigon, Veronica Mantovani, Fabio Galeotti, Marika Salvalaio, Francesca D’Avanzo, Alessandra Zanetti, Federica Capitani, Orazio Gabrielli, Rosella Tomanin, Nicola Volpi
مصطلحات موضوعية: Mice, Knockout, Dermatan-sulfate, Animal, Knockout, Dermatan Sulfate, Disaccharides, Mucopolysaccharidosis type II, Body Fluids, Disease Models, Animal, Mice, Enzyme replacement therapy, Glycosaminoglycans, Heparan-sulfate, Iduronate 2-sulfatase, Animals, Biomarkers, Enzyme Replacement Therapy, Heparitin Sulfate, Mucopolysaccharidosis II, Drug Discovery, Disease Models, Molecular Medicine, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54517bb2a52d9c9302dfb770f7a8a3b
https://hdl.handle.net/11380/1287532 -
8
المؤلفون: Guido Zampieri, Rosella Tomanin, Giorgio Valle, Angelica Rampazzo, Monica Forzan, Fabio De Pascale, Erika Feltrin, Loris Bertoldi, Francesca D’Avanzo, Alessandra Zanetti
المصدر: The Journal of Molecular Diagnostics. 22:488-502
مصطلحات موضوعية: Male, 0301 basic medicine, Lysosomal storage disorders, Computational biology, Genetic analysis, DNA sequencing, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Allele, Gene, Exome, Alleles, Genetic Association Studies, Exome sequencing, Comparative Genomic Hybridization, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, Lysosomal Storage Diseases, Phenotype, 030104 developmental biology, Case-Control Studies, 030220 oncology & carcinogenesis, Mutation, Molecular Medicine, Female, business, Biomarkers, Comparative genomic hybridization
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9
المؤلفون: Rosella Tomanin, Nicole Miller, Litsa Karageorgos, Mitch Bailey, Alessandra Zanetti, John J. Hopwood, Hitoshi Sakuraba, Moeenaldeen Al-Sayed
المساهمون: Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al-Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J
المصدر: Human Mutation
مصطلحات موضوعية: 0301 basic medicine, Arylsulfatase B, medicine.medical_specialty, Databases, Factual, ASB, databases, N-Acetylgalactosamine-4-Sulfatase, Genetic counseling, MPS VI, Mucopolysaccharidosis type VI, Molecular Conformation, Mutation, Missense, Genomics, Biology, Mutation Updates, 03 medical and health sciences, Gene Frequency, Genetics, medicine, Humans, Missense mutation, Genetic Testing, Allele, Gene, Societies, Medical, Genetics (clinical), Genetics & Heredity, variants, Mutation Update, Mucopolysaccharidosis VI, Homozygote, Genetic Variation, arylsulfatase B, Early Diagnosis, 030104 developmental biology, Medical genetics, ARSB, lysosomal storage disorder
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10
المؤلفون: Claudio Forcato, Susanna Negrisolo, Giovanni Birolo, Erika Feltrin, Alessandra Zanetti, Riccardo Schiavon, Alessandro Vezzi, Franca Anglani, Francesca D’Avanzo, Giorgio Valle, Nicola Vitulo, Georgine Faulkner, Rosella Tomanin, Fabio De Pascale, Loris Bertoldi
المصدر: BMC Bioinformatics, Vol 18, Iss 1, Pp 1-11 (2017)
BMC Bioinformaticsمصطلحات موضوعية: 0301 basic medicine, Exome sequencing, Variant prioritization, Exome sequencing, Variant annotation, Data integration, Process (engineering), Interface (Java), Data integration, Variant annotation, Variant prioritization, Disease, Exome, Genome, Human, Humans, Internet, Databases, Genetic, Genetic Variation, Software, Computational biology, Biology, computer.software_genre, lcsh:Computer applications to medicine. Medical informatics, Biochemistry, Field (computer science), 03 medical and health sciences, Inheritance (object-oriented programming), Databases, 0302 clinical medicine, Genetic, Structural Biology, Molecular Biology, lcsh:QH301-705.5, Flexibility (engineering), Information retrieval, Genome, Applied Mathematics, Computer Science Applications, 030104 developmental biology, XML Schema (W3C), lcsh:Biology (General), lcsh:R858-859.7, computer, 030217 neurology & neurosurgery, Human