المؤلفون: Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100678- (2020)

مصطلحات موضوعية: Beta-glucosidase, Gaucher, Myoclonic epilepsy, Ambroxol, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920301245Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/c76429547ea544bda01a8f9b7b7c690eTest

المؤلفون: Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri, Sara Rinaldo, Daniela Macor, Alessandro Moro, Roberto Eleopra, Bruno Bembi

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Gaucher type 1 disease, Bone pain, Neuropathic pain, Small fibre neuropathy, Peripheral neuropathy, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0700-7Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/736390f9517a495cb7aa83f4978ff37eTest

المؤلفون: Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Paolo Peruzzo, Maurizio Scarpa, Giovanni Ciana, Andrea Dardis

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 11, p 5538 (2021)

مصطلحات موضوعية: GBA, clinical exome sequencing, MLPA, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/11/5538Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/023a1100b64a4c90ae3116e53dadc886Test

المؤلفون: Agostino Accardo, Stefano Pensiero, Giovanni Ciana, Fulvio Parentin, Bruno Bembi

المصدر: Neurology Research International, Vol 2010 (2010)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-1852Test; https://doaj.org/toc/2090-1860Test

الوصول الحر: https://doaj.org/article/31d6070e48fc4c8f9abd219486a00679Test

المؤلفون: Fabio De Martin, Alessandro Moro, Elisa Michelesio, Francesca Valent, Daniela Macor, Maria Rosalia Da Riol, Laura Deroma, Paolo Martina, Bruno Bembi, Giovanni Ciana

المصدر: Value in Health. 22:1003-1011

مصطلحات موضوعية: Adult, Male, administrative health data, data linkage, disease registry, Italy, rare diseases, medicine.medical_specialty, Common disease, Efficiency, Organizational, 03 medical and health sciences, Health services, 0302 clinical medicine, Clinical Protocols, Ambulatory care, Epidemiology, Humans, Medicine, Public Health Surveillance, Registries, 030212 general & internal medicine, Medical prescription, Aged, business.industry, 030503 health policy & services, Health Policy, Public Health, Environmental and Occupational Health, Health Services, Middle Aged, Patient Acceptance of Health Care, Hospitalization, Friuli venezia giulia, Socioeconomic Factors, Emergency medicine, Health Resources, Female, Health Expenditures, 0305 other medical science, business, Pediatric population, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fcfa9986718202fd6ca8586fdd6cf0Test
https://doi.org/10.1016/j.jval.2019.04.1917Test

المؤلفون: Roberto Eleopra, Alessandro Moro, Sara Rinaldo, Daniela Macor, Christian Lettieri, Michele De Filippo, Grazia Devigili, Andrea Dardis, Bruno Bembi, Giovanni Ciana

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Peripheral neuropathy, lcsh:Medicine, Neuropathic pain, Young Adult, 03 medical and health sciences, Bone pain, 0302 clinical medicine, Surveys and Questionnaires, Humans, Medicine, Pharmacology (medical), Child, Genetics (clinical), Skin, Small fibre neuropathy, Gaucher Disease, business.industry, Research, lcsh:R, Chronic pain, General Medicine, Enzyme replacement therapy, Hypoesthesia, Middle Aged, medicine.disease, Dermatology, Cross-Sectional Studies, 030104 developmental biology, Child, Preschool, Pain Origin, Hyperalgesia, Gaucher type 1 disease, Neuralgia, Female, Chronic Pain, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859d05fc711f44fee13f4459c4a2e5f4Test
http://link.springer.com/article/10.1186/s13023-017-0700-7Test

المؤلفون: Agostino Accardo, Stefano Pensiero, Giovanni Ciana, Fulvio Parentin, Bruno Bembi

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/9b/e4/Neurol_Res_Int_2010_Sep_26_2010_358534.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.291.9479Test

المؤلفون: Antonio Barbato, Eleonora Pavan, Andrea Dardis, Maurizio Scarpa, Silvia Cattarossi, Agata Fiumara, Giovanni Ciana, Stefania Zampieri, Paolo Peruzzo

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 5538, p 5538 (2021)

مصطلحات موضوعية: Male, DNA Copy Number Variations, Genotype, QH301-705.5, Genetic counseling, Biology, medicine.disease_cause, Catalysis, GBA, Inorganic Chemistry, medicine, Humans, Exome, Family, Multiplex, Copy-number variation, Multiplex ligation-dependent probe amplification, Biology (General), Physical and Theoretical Chemistry, Allele, QD1-999, Molecular Biology, Genotyping, Alleles, Spectroscopy, Exome sequencing, Genetics, Mutation, Gaucher Disease, beta-Glucosidase, Communication, Homozygote, Organic Chemistry, clinical exome sequencing, Clinical exome sequencing, MLPA, General Medicine, Pedigree, Computer Science Applications, Chemistry, HEK293 Cells, Female, Multiplex Polymerase Chain Reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9593b623566c99f27b15b06e030099Test
https://doi.org/10.3390/ijms22115538Test

المؤلفون: Elisa Bregant, Andrea Dardis, Stefania Zampieri, Giovanni Ciana, Irene Zanin, Annalisa Pianta, Monica Cazzagon, Marta Bertoli, Bruno Bembi, Giuseppe Damante

مصطلحات موضوعية: Male, Genotype, Limb Deformities, Congenital, Gene Expression, Biology, Congenital, SULF1, Mesomelia, Gene expression, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Allele, Child, Gene, Genetics (clinical), Alleles, Genetic Association Studies, Comparative Genomic Hybridization, Chromosome Mapping, medicine.disease, Phenotype, Sulfotransferases, Synostosis, Limb Deformities, Abnormalities, Multiple, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbcea46f6361dac9e4523a8e68be8ce9Test
http://hdl.handle.net/11390/1200726Test

المؤلفون: Anna Martina Franzil, Bruno Bembi, Andrea Dardis, Laura Deroma, Giovanni Ciana

المصدر: Journal of Inherited Metabolic Disease. 35:1101-1106

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Imiglucerase, Bone remodeling, Cohort Studies, Young Adult, Bone Density, Alglucerase, Genetics, medicine, Humans, Enzyme Replacement Therapy, Child, Genetics (clinical), Retrospective Studies, Bone mineral, Gaucher Disease, business.industry, Retrospective cohort study, Enzyme replacement therapy, medicine.disease, Surgery, Osteopenia, Bone Diseases, Metabolic, Child, Preschool, Cohort, Glucosylceramidase, Female, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71d8e161e4a77004ab9d6ab74e2fdf70Test
https://doi.org/10.1007/s10545-012-9476-zTest