نتائج البحث - "Graziano, C."

المساهمون: Morgan, A., Lenarduzzi, S., Spedicati, B., Cattaruzzi, E., Murru, F. M., Pelliccione, G., Mazza, D., Zollino, M., Graziano, C., Ambrosetti, U., Seri, M., Faletra, F., Girotto, G., Morgan A., Lenarduzzi S., Spedicati B., Cattaruzzi E., Murru F.M., Pelliccione G., Mazza D., Zollino M., Graziano C., Ambrosetti U., Seri M., Faletra F., Girotto G.

المصدر: Genes, Vol 11, Iss 1237, p 1237 (2020)
Genes
Volume 11
Issue 11

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Hearing loss, Deafness, DNA, Mitochondrial, Article, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, molecular diagnosis, Genetics, Connexin 30, Medicine, Humans, Multiplex ligation-dependent probe amplification, Genetic Testing, Genetics (clinical), Exome sequencing, Genetic testing, biology, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Whole exome sequencing, Hereditary hearing lo, Hereditary hearing loss, MLPA, Molecular diagnosis, Connexin 26, lcsh:Genetics, 030104 developmental biology, Molecular diagnosi, Italy, Molecular Diagnostic Techniques, biology.protein, hereditary hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, GJB6, Non syndromic, STRC

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d2079416f79cd804fc5d2ef436d264dTest
https://www.mdpi.com/2073-4425/11/11/1237Test

8

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

المساهمون: Mantovani V., Bin S., Graziano C., Capelli I., Minardi R., Aiello V., Ambrosini E., Cristalli C.P., Mattiaccio A., Pariali M., De Fanti S., Faletra F., Grosso E., Cantone R., Mancini E., Mencarelli F., Pasini A., Wischmeijer A., Sciascia N., Seri M., La Manna G.

المصدر: Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, PKD2, PKD1, Autosomal dominant polycystic kidney disease, Biology, urologic and male genital diseases, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Polycystic kidney disease, Multiplex ligation-dependent probe amplification, Genetics (clinical), Original Research, ADPKD, Genetic testing, Sanger sequencing, polycystic kidney disease, medicine.diagnostic_test, urogenital system, PRKCSH, cystogene, medicine.disease, female genital diseases and pregnancy complications, lcsh:Genetics, 030104 developmental biology, NGS, 030220 oncology & carcinogenesis, cystogenes, symbols, Molecular Medicine, Allelic heterogeneity

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7040f305efbe6c57b226e37665ea5a6Test
https://doi.org/10.3389/fgene.2020.00464Test

9

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

المساهمون: Palombo F., Graziano C., Al Wardy N., Nouri N., Marconi C., Magini P., Severi G., La Morgia C., Cantalupo G., Cordelli D.M., Gangarossa S., Al Kindi M.N., Al Khabouri M., Salehi M., Giorgio E., Brusco A., Pisani F., Romeo G., Carelli V., Pippucci T., Seri M.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d93c669a8cc90cf54ea41bbc683c0e7Test
https://hdl.handle.net/11573/1669610Test

10

Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study

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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