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1دورية أكاديمية
المؤلفون: Mariucci E., Bonori L., Lovato L., Graziano C., Ciuca C., Pacini D., Di Marco L., Angeli E., Careddu L., Gargiulo G., Donti A.
المساهمون: Mariucci E., Bonori L., Lovato L., Graziano C., Ciuca C., Pacini D., Di Marco L., Angeli E., Careddu L., Gargiulo G., Donti A.
مصطلحات موضوعية: Adolescent, Adult, Aged, Anastomosis, Surgical, Aneurysm, False, Aorta, Blood Vessel Prosthesis Implantation, Cohort Studie, Computed Tomography Angiography, Coronary Aneurysm, Coronary Vessel, Female, Follow-Up Studie, Human, Male, Marfan Syndrome, Middle Aged, Retrospective Studie, Severity of Illness Index, Young Adult
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33711475; info:eu-repo/semantics/altIdentifier/wos/WOS:000689316000018; volume:37; issue:8; firstpage:1225; lastpage:1231; numberofpages:7; journal:CANADIAN JOURNAL OF CARDIOLOGY; http://hdl.handle.net/11585/849801Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107443629
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2دورية أكاديمية
المؤلفون: Di Pisa V., Provini F., Ubertiello S., Bonetti S., Ricci E., Ivanovski I., Caraffi S. G., Giordano L., Accorsi P., Savasta S., Raviglione F., Boni A., Grioni D., Graziano C., Garavelli L., Cordelli D. M.
المساهمون: V. Di Pisa, F. Provini, S. Ubertiello, S. Bonetti, E. Ricci, I. Ivanovski, S.G. Caraffi, L. Giordano, P. Accorsi, S. Savasta, F. Raviglione, A. Boni, D. Grioni, C. Graziano, L. Garavelli, D.M. Cordelli
مصطلحات موضوعية: ESES, Mowat-wilson syndrome, Sleep disturbance, Video-polysomnography, Adolescent, Adult, Age Factor, Child, Preschool, Electroencephalography, Facie, Female, Hirschsprung Disease, Human, Infant, Intellectual Disability, Italy, Male, Microcephaly, Sleep, Sleep Wake Disorder, Surveys and Questionnaire, Young Adult, Polysomnography, Video Recording, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31285160; info:eu-repo/semantics/altIdentifier/wos/WOS:000483911300008; volume:61; firstpage:44; lastpage:51; numberofpages:8; journal:SLEEP MEDICINE; http://hdl.handle.net/2434/897085Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068249885
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المؤلفون: Garone, C, Pippucci, T, Cordelli, Dm, Zuntini, R, Castegnaro, G, Marconi, C, Graziano, C, Marchiani, V, VERROTTI DI PIANELLA, Alberto, Seri, M, Franzoni, E.
مصطلحات موضوعية: Male, Adolescent, DNA Mutational Analysis, Neurodegenerative Diseases, Perinatology and Child Health, Magnetic Resonance Imaging, Pediatrics, Mixed Function Oxygenases, Young Adult, Developmental Neuroscience, Mutation, Humans, Neurology (clinical), Follow-Up Studies, Pediatrics, Perinatology and Child Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f7717ff80eb1c1f43afcb52b51eb5827Test
http://hdl.handle.net/11697/125252Test -
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المؤلفون: BONORA, ELENA, GRAZIANO, CLAUDIO, MINOPOLI, FIORELLA, BACCHELLI, ELENA, MAGINI, PAMELA, DIQUIGIOVANNI, CHIARA, LOMARTIRE, SILVIA, Bianco F, VARGIOLU, MANUELA, PARCHI, PIERO, MARASCO, ELENA, Mantovani V, Rampoldi L, Trudu M, PARMEGGIANI, ANTONIA, Battaglia A, Mazzone L, Tortora G, MAESTRINI, ELENA, SERI, MARCO, Romeo G, IMGSAC
المساهمون: Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G, Maestrini E, Seri M, Romeo G, IMGSAC, Bonora, E, Graziano, C, Minopoli, F, Bacchelli, E, Magini, P, Diquigiovanni, C, Lomartire, S, Bianco, F, Vargiolu, M, Parchi, P, Marasco, E, Mantovani, V, Rampoldi, L, Trudu, M, Parmeggiani, A, Battaglia, A, Mazzone, L, Tortora, G, Maestrini, E, Seri, M, Romeo, G
المصدر: EMBO Molecular Medicine
مصطلحات موضوعية: Male, Vesicular Transport Proteins, Inbred C57BL, medicine.disease_cause, Mice, 0302 clinical medicine, autism spectrum disorders (ASDs), Receptors, Intellectual disability, Missense mutation, Developmental, Protein Interaction Maps, Child, Research Articles, Sequence Deletion, Genetics, Mutation, 0303 health sciences, monoallelic expression, Gene Expression Regulation, Developmental, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, intellectual disability, Child, Preschool, DNA methylation, Molecular Medicine, CADPS2, Female, Corrigendum, Adult, Child Development Disorders, autism spectrum disorders, Nerve Tissue Proteins, Biology, 03 medical and health sciences, Young Adult, Dopamine D2, medicine, Animals, Humans, Allele, MUTATION SCREENING, Preschool, Gene, Alleles, Pervasive, 030304 developmental biology, Aged, Receptors, Dopamine D2, Calcium-Binding Proteins, Genetic Variation, Infant, DNA Methylation, medicine.disease, Mice, Inbred C57BL, Gene Expression Regulation, Child Development Disorders, Pervasive, Autism, CpG Islands, mutation screening, Intellectual Disability, 030217 neurology & neurosurgery
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e62e64e72958619aaabf16aeeae21a4Test
http://hdl.handle.net/11585/295519Test -
5دورية أكاديمية
المؤلفون: BONORA, ELENA, BIANCO, FRANCESCA, Cordeddu, L, Bamshad, M, Francescatto, L, Dowless, D, STANGHELLINI, VINCENZO, COGLIANDRO, ROSANNA FRANCESCA, Lindberg, G, Mungan, Z, Cefle, K, Ozcelik, T, Palanduz, S, Ozturk, S, Gedikbasi, A, GORI, ALESSANDRA, PIPPUCCI, TOMMASO, GRAZIANO, CLAUDIO, VOLTA, UMBERTO, CAIO, GIACOMO PIETRO ISMAELE, BARBARA, GIOVANNI, D'Amato, M, SERI, MARCO, Katsanis, N, ROMEO, GIOVANNI, DE GIORGIO, ROBERTO
المساهمون: Bonora, E, Bianco, F, Cordeddu, L, Bamshad, M, Francescatto, L, Dowless, D, Stanghellini, V, Cogliandro, Rf, Lindberg, G, Mungan, Z, Cefle, K, Ozcelik, T, Palanduz, S, Ozturk, S, Gedikbasi, A, Gori, A, Pippucci, T, Graziano, C, Volta, U, Caio, G, Barbara, G, D'Amato, M, Seri, M, Katsanis, N, Romeo, G, De Giorgio, R.
مصطلحات موضوعية: Animal Model, Genetic Analysi, Intestinal Motility, Sporadic and Familial Chronic Intestinal Pseudo-obstruction, Adult, Animal, Apolipoprotein B-100, Case-Control Studie, Cell Cycle Protein, Chronic Disease, Core Binding Factor Alpha 2 Subunit, Enteric Nervous System, Female, Gastrointestinal Motility, Gene Expression Profiling, Gene Knockdown Technique, HEK293 Cell, Human, Intestinal Pseudo-Obstruction, Male, Middle Aged, Nuclear Protein, Phosphoprotein, RNA, Messenger, Sequence Analysis, DNA, Young Adult, Zebrafish, Zebrafish Protein
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25575569; info:eu-repo/semantics/altIdentifier/wos/WOS:000351639000024; ispartofbook:Gastroenterology; volume:148; issue:4; firstpage:771; lastpage:782; numberofpages:12; journal:GASTROENTEROLOGY; info:eu-repo/grantAgreement/EC/FP7/223692; http://hdl.handle.net/11585/454172Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84925356476; http://www.journals.elsevier.com/gastroenterologyTest/
الإتاحة: https://doi.org/10.1053/j.gastro.2014.12.034Test
http://hdl.handle.net/11585/454172Test
http://www.journals.elsevier.com/gastroenterologyTest/ -
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المؤلفون: Claudio Graziano, Luca Spinardi, S. De Martino, Luca Faccioli, Gianfranco Vornetti, M. Pastore Trossello, Andrea Donti, R. Golfieri, Elisabetta Mariucci
المساهمون: Spinardi, L., Vornetti, G., De Martino, S., Golfieri, R., Faccioli, L., Pastore Trossello, M., Graziano, C., Mariucci, E., Donti, A.
المصدر: AJNR Am J Neuroradiol
مصطلحات موضوعية: Marfan syndrome, Adult, Male, medicine.medical_specialty, Intraclass correlation, Connective tissue, Tortuosity, Loeys–Dietz syndrome, Pediatrics, 030218 nuclear medicine & medical imaging, Marfan Syndrome, Diagnosis, Differential, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Image Interpretation, Computer-Assisted, medicine, Humans, Radiology, Nuclear Medicine and imaging, Retrospective Studies, Loeys-Dietz Syndrome, Tortuosity Index, business.industry, Brain, Reproducibility of Results, Intracranial Arterial Tortuosity, Arteries, Differential Diagnosis, Middle Aged, medicine.disease, Connective tissue disease, Comorbidity, Cerebral Angiography, medicine.anatomical_structure, Cardiology, Female, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Magnetic Resonance Angiography
وصف الملف: ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40717bd724567fa9a7a59c3bc80ed1beTest
https://europepmc.org/articles/PMC7661085Test/ -
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المؤلفون: Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari
المساهمون: Živná, M, Kidd, K, Zaidan, M, Vyleťal, P, Barešová, V, Hodaňová, K, Sovová, J, Hartmannová, H, Votruba, M, Trešlová, H, Jedličková, I, Sikora, J, Hůlková, H, Robins, V, Hnízda, A, Živný, J, Papagregoriou, G, Mesnard, L, Beck, Bb, Wenzel, A, Tory, K, Häeffner, K, Wolf, Mtf, Bleyer, Me, Sayer, Ja, Ong, Acm, Balogh, L, Jakubowska, A, Łaszkiewicz, A, Clissold, R, Shaw-Smith, C, Munshi, R, Haws, Rm, Izzi, C, Capelli, I, Santostefano, M, Graziano, C, Scolari, F, Sussman, A, Trachtman, H, Decramer, S, Matignon, M, Grimbert, P, Shoemaker, Lr, Stavrou, C, Abdelwahed, M, Belghith, N, Sinclair, M, Claes, K, Kopel, T, Moe, S, Deltas, C, Knebelmann, B, Rampoldi, L, Kmoch, S, Bleyer, Aj
المصدر: Kidney international. 98(6)
مصطلحات موضوعية: 0301 basic medicine, Signal peptide, Adult, Male, medicine.medical_specialty, Mutant, 030232 urology & nephrology, Chromosomal translocation, autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Renin–angiotensin system, Renin, medicine, Humans, Secretion, Child, Mutation, Polycystic Kidney Diseases, business.industry, Endoplasmic reticulum, Anemia, medicine.disease, 030104 developmental biology, Endocrinology, Nephrology, Female, business, Kidney disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59aTest
https://pubmed.ncbi.nlm.nih.gov/33276865Test -
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المؤلفون: Andrea Donti, Anita Wischmeijer, Luca Di Marco, Gaetano Gargiulo, Claudio Graziano, Elisabetta Mariucci, Silvia Stagni, Lucio Careddu, Cristina Ciuca, Emanuela Angeli, Luigi Lovato, Luca Spinardi, Davide Pacini
المساهمون: Mariucci E., Spinardi L., Stagni S., Graziano C., Lovato Luigi, Pacini D., Di Marco L., Careddu L., Angeli E., Ciuca C., Wischmeijer Anita, Gargiulo G., Donti Andrea
مصطلحات موضوعية: 0301 basic medicine, Aortic arch, Adult, Male, Loeys–Dietz syndrome, Adolescent, Receptor, Transforming Growth Factor-beta Type I, Geometry, Disease, 030105 genetics & heredity, Aortic arches, 03 medical and health sciences, Young Adult, Aneurysm, medicine.artery, Genetics, medicine, Humans, In patient, Smad3 Protein, aortic dissection, Child, Genetics (clinical), Aorta, Aged, Retrospective Studies, Aortic dissection, Loeys-Dietz Syndrome, business.industry, Receptor, Transforming Growth Factor-beta Type II, Infant, Retrospective cohort study, Middle Aged, medicine.disease, aortic disease, Aortic Aneurysm, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Child, Preschool, aneurysm, Female, business
وصف الملف: ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fb7f6aa2a91d4fcc53219b9da52ae0Test
http://hdl.handle.net/11585/765852Test -
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المؤلفون: Patrizia Accorsi, Federica Provini, Emilia Ricci, Claudio Graziano, Ivan Ivanovski, Veronica Di Pisa, Livia Garavelli, Federico Raviglione, Silvia Bonetti, Daniele Grioni, Antonella Boni, Salvatore Savasta, Stefano Giuseppe Caraffi, Duccio Maria Cordelli, Lucio Giordano, Sara Ubertiello
المساهمون: Di Pisa V., Provini F., Ubertiello S., Bonetti S., Ricci E., Ivanovski I., Caraffi S.G., Giordano L., Accorsi P., Savasta S., Raviglione F., Boni A., Grioni D., Graziano C., Garavelli L., Cordelli D.M.
مصطلحات موضوعية: Adult, Male, Sleep Wake Disorders, medicine.medical_specialty, Neurology, Adolescent, Mowat–Wilson syndrome, Polysomnography, Video Recording, Sleep disturbance, Electroencephalography, Audiology, Arousal, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Mowat-wilson syndrome, Intellectual Disability, Surveys and Questionnaires, medicine, ESES, Humans, In patient, Hirschsprung Disease, Child, medicine.diagnostic_test, business.industry, Age Factors, Facies, Infant, General Medicine, Sleep architecture, medicine.disease, Sleep in non-human animals, Video-polysomnography, 030228 respiratory system, Italy, Child, Preschool, Microcephaly, Female, Sleep onset, business, Sleep, 030217 neurology & neurosurgery
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05db28f38dac20ad3f8073f0ea003950Test
http://hdl.handle.net/11585/698327Test -
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المؤلفون: Claudio Graziano, Margit Nõukas, Alka Chaubey, Livia Garavelli, Georg F. Hoffmann, Tommaso Pippucci, Ants Kurg, Elena Bonora, Martin Sauk, Charles E. Schwartz, Carlo Fusco, Nenad Blau, Giovanni Romeo, Francesca Rivieri, Chiara Diquigiovanni, Marco Seri, Anita Wischmeijer
المساهمون: Graziano, C, Wischmeijer, A, Pippucci, T, Fusco, C, Diquigiovanni, C, Nõukas, M, Sauk, M, Kurg, A, Rivieri, F, Blau, N, Hoffmann, Gf, Chaubey, A, Schwartz, Ce, Romeo, G, Bonora, E, Garavelli, L, Seri, M.
المصدر: Gene
مصطلحات موضوعية: Adult, Male, Mutation, Missense, Biology, Polymorphism, Single Nucleotide, Consanguinity, Young Adult, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Exome sequencing, Dystonia, Aromatic L-amino acid decarboxylase, Base Sequence, Metabolic disorder, Whole exome sequencing, General Medicine, Syndrome, medicine.disease, Phenotype, Hypotonia, 3. Good health, Aromatic-L-Amino-Acid Decarboxylases, medicine.symptom, DDC
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::498391e58c7e48c56e0547d8e76753d3Test
