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1Academic Journal
المؤلفون: Gaia Chiara Mannino, Serena Pezzilli, Carolina Averta, Anastasia Fuoco, Rosangela Spiga, Elettra Mancuso, Concetta Di Fatta, Francesco Perticone, Sabrina Prudente, Vincenzo Trischitta, Francesco Andreozzi, Giorgio Sesti
المصدر: Cardiovascular Diabetology, Vol 18, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Asymmetric dimethylarginine, Myocardial infarction, Dimethylarginine dimethylaminohydrolase, Type 2 diabetes, rs9267551, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Antonella Marucci, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Rosa Di Paola, Vincenzo Trischitta
المصدر: Genes; Volume 13; Issue 1; Pages: 117
مصطلحات موضوعية: actionable genes, monogenic diabetes, MODY, syndromic diabetes, precision medicine, individual intervention
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13010117
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3Academic Journal
المؤلفون: Bertoccini, Laura, Bailetti, Diego, SUMMER Study in Diabetes Group (Summer, Elena Alessi, Francesco Bagella, Ilaria Barchetta, Danila Capoccia, Silvia Carletti, Federica Coccia, Francesco Conti, Luca D'Onofrio, Tiziana Filardi, Giulia Leanza, Gianluca Margiotta, Michela Incani, Chiara Moretti, Serena Pezzilli, Carlotta Pibiri, Pamela Piscitelli, Maria Giovanna Scarale, Federica Sentinelli, Federica Tavaglione), Buzzetti Raffaella, Cavallo, Maria Gisella, Copetti, Massimiliano, Cossu, Efisio, D'Angelo, Paola, De Cosmo, Salvatore, Di Mauro, Lazzaro, Leonetti, Frida, Morano, Susanna, Morviducci, Lelio, Napoli, Nicola, Prudente, Sabrina, Pugliese, Giuseppe, Trischitta, Vincenzo, Baroni Marco Giorgio.
المساهمون: Bertoccini, Laura, Bailetti, Diego, SUMMER Study in Diabetes Group (Summer, Alessi, Elena, Bagella, FRANCESCO MARIA, Barchetta, Ilaria, Capoccia, Danila, Silvia, Carletti, Coccia, Federica, Conti, Francesco, D'Onofrio, Luca, Filardi, Tiziana, Giulia, Leanza, Gianluca, Margiotta, Incani, Michela, Moretti, Chiara, Pezzilli, Serena, Pibiri, Carlotta, Pamela, Piscitelli, Maria Giovanna Scarale, Sentinelli, Federica, Tavaglione, Federica, Buzzetti, Raffaella, Cavallo, Maria Gisella, Copetti, Massimiliano, Cossu, Efisio, D'Angelo, Paola, De Cosmo, Salvatore, Di Mauro, Lazzaro, Leonetti, Frida, Morano, Susanna, Morviducci, Lelio, Napoli, Nicola, Prudente, Sabrina, Pugliese, Giuseppe, Trischitta, Vincenzo, Baroni Marco, Giorgio.
مصطلحات موضوعية: CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1), DHCR7 (7-dehydrocholesterol reductase), GC (Vitamin D Binding Protein), SUMMER Study in Diabete, genetic risk score
Relation: info:eu-repo/semantics/altIdentifier/pmid/30405883; volume:9; issue:79; firstpage:34911; lastpage:34918; numberofpages:8; journal:ONCOTARGET; http://hdl.handle.net/11573/1203353; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063158482
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4
المؤلفون: Antonella Marucci, Rosa Di Paola, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Vincenzo Trischitta
المصدر: Acta diabetologica. 60(1)
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine, General Medicine
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5Academic Journal
المؤلفون: Federica Innocenti, Lidia Cerquetti, Serena Pezzilli, Barbara Bucci, Vincenzo Toscano, Rita Canipari, Antonio Stigliano
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
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6Academic Journal
المؤلفون: Prapaporn Jungtrakoon Thamtarana, Antonella Marucci, Luca Pannone, Amélie Bonnefond, Serena Pezzilli, Tommaso Biagini, Patinut Buranasupkajorn, Timothy Hastings, Christine Mendonca, Lorella Marselli, Rosa Di Paola, Zuroida Abubakar, Luana Mercuri, Federica Alberico, Elisabetta Flex, Julian Ceròn, Montserrat Porta-de-la-Riva, Ornella Ludovico, Massimo Carella, Simone Martinelli, Piero Marchetti, Tommaso Mazza, Philippe Froguel, Vincenzo Trischitta, Alessandro Doria, Sabrina Prudente
المساهمون: Jungtrakoon Thamtarana, Prapaporn, Marucci, Antonella, Pannone, Luca, Bonnefond, Amélie, Pezzilli, Serena, Biagini, Tommaso, Buranasupkajorn, Patinut, Hastings, Timothy, Mendonca, Christine, Marselli, Lorella, Di Paola, Rosa, Abubakar, Zuroida, Mercuri, Luana, Alberico, Federica, Flex, Elisabetta, Ceròn, Julian, Porta-de-la-Riva, Montserrat, Ludovico, Ornella, Carella, Massimo, Martinelli, Simone, Marchetti, Piero, Mazza, Tommaso, Froguel, Philippe, Trischitta, Vincenzo, Doria, Alessandro, Prudente, Sabrina
مصطلحات موضوعية: Krebs cycle, autosomal dominant diabete, gene mutation, glucose homeostasi, insulin secretion, monogenic diabetes
Relation: info:eu-repo/semantics/altIdentifier/pmid/34718610; info:eu-repo/semantics/altIdentifier/wos/WOS:000756897900007; volume:107; issue:3; firstpage:668; lastpage:684; numberofpages:17; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; http://hdl.handle.net/11573/1604559
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7
المؤلفون: Antonella Marucci, Rosa Di Paola, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Vincenzo Trischitta
المصدر: Acta Diabetologica. 60:459-459
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine, General Medicine
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8
المؤلفون: Serena Pezzilli, Tommaso Mazza, Maria Giovanna Scarale, Yaling Tang, Francesco Andreozzi, Marco Giorgio Baroni, Raffaella Buzzetti, Maria Gisella Cavallo, Efisio Cossu, Paola D’Angelo, Salvatore De Cosmo, Olga Lamacchia, Frida Leonetti, Susanna Morano, Lelio Morviducci, Giuseppe Penno, Paolo Pozzilli, Giuseppe Pugliese, Giorgio Sesti, Alessandro Doria, Vincenzo Trischitta, Sabrina Prudente
المساهمون: Pezzilli, Serena, Mazza, Tommaso, Scarale, Maria Giovanna, Tang, Yaling, Andreozzi, Francesco, Baroni, Marco Giorgio, Buzzetti, Raffaella, Cavallo, Maria Gisella, Cossu, Efisio, D'Angelo, Paola, De Cosmo, Salvatore, Lamacchia, Olga, Leonetti, Frida, Morano, Susanna, Morviducci, Lelio, Penno, Giuseppe, Pozzilli, Paolo, Pugliese, Giuseppe, Sesti, Giorgio, Doria, Alessandro, Trischitta, Vincenzo, Prudente, Sabrina
المصدر: Acta diabetologica. 59(5)
مصطلحات موضوعية: Adult, Endocrinology, Diabetes and Metabolism, Precision medicine, High-Throughput Nucleotide Sequencing, General Medicine, Early-onset type 2 diabetes, Monogenic diabetes, Endocrinology, Diabetes Mellitus, Type 2, Mutation, Internal Medicine, Humans, Genetic Testing
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9
المؤلفون: Serena Pezzilli, Manoush Tohidirad, Tommaso Biagini, Maria Giovanna Scarale, Federica Alberico, Luana Mercuri, Gaia Chiara Mannino, Monia Garofolo, Tiziana Filardi, Yaling Tang, Fernando Giuffrida, Christine Mendonca, Francesco Andreozzi, Marco Giorgio Baroni, Raffaella Buzzetti, Maria Gisella Cavallo, Efisio Cossu, Paola D'Angelo, Salvatore De Cosmo, Olga Lamacchia, Frida Leonetti, Susanna Morano, Lelio Morviducci, Giuseppe Penno, Paolo Pozzilli, Giuseppe Pugliese, Giorgio Sesti, Tommaso Mazza, Alessandro Doria, Vincenzo Trischitta, Sabrina Prudente
المصدر: Diabetes & Metabolism. 48:101353
مصطلحات موضوعية: Adult, Endocrinology, Diabetes and Metabolism, Rare variants, Type 2 diabetes, Single Nucleotide, General Medicine, Polymorphism, Single Nucleotide, genetic risk score, Endocrinology, Diabetes Mellitus, Type 2, Monogenic diabetes, Gene Frequency, Case-Control Studies, Diabetes Mellitus, Internal Medicine, Humans, Genetic Predisposition to Disease, Early-onset type 2 diabetes, Polymorphism, Type 2, Monogenic diabetes, genetic risk score
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10
المؤلفون: Ornella Ludovico, Luana Mercuri, Amélie Bonnefond, Federica Alberico, Zuroida Abubakar, Tommaso Mazza, Timothy Hastings, Prapaporn Jungtrakoon Thamtarana, Rosa Di Paola, Serena Pezzilli, Patinut Buranasupkajorn, Simone Martinelli, Elisabetta Flex, Philippe Froguel, Massimo Carella, Tommaso Biagini, Julián Cerón, Piero Marchetti, Vincenzo Trischitta, Montserrat Porta-de-la-Riva, Alessandro Doria, Antonella Marucci, Christine Mendonca, Lorella Marselli, Luca Pannone, Sabrina Prudente
المصدر: J Clin Endocrinol Metab
مصطلحات موضوعية: Adult, Blood Glucose, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Primary Cell Culture, Gene mutation, Biology, medicine.disease_cause, Biochemistry, Animals, Genetically Modified, Islets of Langerhans, Mice, Endocrinology, Malate Dehydrogenase, Internal medicine, Cell Line, Tumor, Insulin Secretion, Exome Sequencing, medicine, Missense mutation, Glucose homeostasis, Animals, Humans, Insulin, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Exome sequencing, Aged, Aged, 80 and over, Mutation, Clinical Research Article, Biochemistry (medical), Malate dehydrogenase 2, Middle Aged, Penetrance, Recombinant Proteins, Insulin receptor, Case-Control Studies, Gain of Function Mutation, Hyperglycemia, Models, Animal, biology.protein, Female
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11
المؤلفون: Prapaporn Jungtrakoon Thamtarana, Antonella, Marucci, Luca, Pannone, Amélie, Bonnefond, Serena, Pezzilli, Tommaso, Biagini, Patinut, Buranasupkajorn, Timothy, Hastings, Christine, Mendonca, Lorella, Marselli, Rosa Di Paola, Zuroida, Abubakar, Luana, Mercuri, Federica, Alberico, Elisabetta, Flex, Julian, Ceròn, Montserrat, Porta-de-la-Riva, Ornella, Ludovico, Massimo, Carella, Simone, Martinelli, Piero, Marchetti, Tommaso, Mazza, Philippe, Froguel, Trischitta, Vincenzo, Alessandro, Doria, Sabrina, Prudente
مصطلحات موضوعية: insulin secretion, autosomal dominant diabetes, monogenic diabetes, glucose homeostasis, Krebs cycle, gene mutation
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12
المؤلفون: Rosangela Spiga, Francesco Andreozzi, Anastasia Fuoco, Elettra Mancuso, Vincenzo Trischitta, Serena Pezzilli, Sabrina Prudente, Concetta Di Fatta, Gaia Chiara Mannino, Giorgio Sesti, Francesco Perticone, Carolina Averta
المصدر: Cardiovascular Diabetology
Cardiovascular Diabetology, Vol 18, Iss 1, Pp 1-9 (2019)مصطلحات موضوعية: Male, lcsh:Diseases of the circulatory (Cardiovascular) system, Asymmetric dimethylarginine, Endocrinology, Diabetes and Metabolism, Myocardial Infarction, myocardial infarction, Dimethylarginine, Dimethylaminohydrolase, type 2 diabetes, rs9267551, Type 2 diabetes, 030204 cardiovascular system & hematology, Coronary artery disease, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Prevalence, Medicine, Myocardial infarction, Endothelial dysfunction, Promoter Regions, Genetic, Original Investigation, 0303 health sciences, education.field_of_study, Incidence, Middle Aged, 3. Good health, Dimethylarginine dimethylaminohydrolase, Phenotype, Italy, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Population, Lower risk, Asymptomatic, Polymorphism, Single Nucleotide, Risk Assessment, White People, Amidohydrolases, 03 medical and health sciences, Internal medicine, Humans, Genetic Predisposition to Disease, education, Genetic Association Studies, 030304 developmental biology, Aged, business.industry, medicine.disease, Cross-Sectional Studies, chemistry, Diabetes Mellitus, Type 2, lcsh:RC666-701, business
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13
المؤلفون: Sonia Abdelhak, Henda Jamoussi, Melika Ben Ahmed, Mariem Gharbi, Haifa Jmel, Abdelmajid Abid, Federica Alberico, Om Kalthoum Sallem, Afaf Bahlous, Hamza Dallali, Rym Kefi, Tommaso Mazza, Serena Pezzilli, Sahar Elouej, Luana Mercuri, Yosra Ben Halima, Mariem Chargui, Sabrina Prudente, Meriem Hechmi, Vincenzo Trischitta
المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut National des Sciences Appliquées et de Technologie - Carthage (INSAT Carthage), Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), CHU Fattouma Bourguiba [Monastir] (HFB), Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Faculté des Sciences de Bizerte [Université de Carthage], Université de Carthage - University of Carthage, Faculté de Médecine de Tunis, Université de Tunis El Manar (UTM), Laboratoire central de biologie médicale, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut National de Nutrition et de Technologie Alimentaire (Tunis) (INNTA), This work was supported by Institut Pasteur of Tunis (PCI-15) and the Tunisian Ministry of higher Education and Scientific Research (LR11 IPT05). This study was partly supported by the Italian Ministry of Health ('Ricerca Corrente 2015–2017' to S. Prudente)., We thank the patients, their parents and healthcare professionals who participated in this study. We also thank the CSS-Mendel Institute (Rome, Italy) for the collaboration and the provision of infrastructure for this research., Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]
المصدر: Acta Diabetologica
Acta Diabetologica, 2019, 56 (5), pp.515-523. ⟨10.1007/s00592-018-01283-5⟩
Acta Diabetologica, Springer Verlag, 2019, 56 (5), pp.515-523. ⟨10.1007/s00592-018-01283-5⟩مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, 0302 clinical medicine, Endocrinology, Hepatocyte Nuclear Factor 1-alpha, Frameshift Mutation, MESH: Heterozygote, Genetics, medicine.diagnostic_test, MESH: Genetic Testing, MESH: Frameshift Mutation, High-Throughput Nucleotide Sequencing, General Medicine, Targeted gene sequencing, 3. Good health, HNF1A, Pedigree, MESH: Diabetes Mellitus, Type 2/genetics, Phenotype, MODY, Genetic testing, Next-generation sequencing, Adult, Diabetes Mellitus, Type 2, Female, Genetic Testing, Heterozygote, Humans, Mutation, Tunisia, MESH: Tunisia, Prioritization, MESH: Mutation, MESH: Pedigree, 030209 endocrinology & metabolism, Biology, MESH: Phenotype, DNA sequencing, Maturity onset diabetes of the young, Frameshift mutation, 03 medical and health sciences, MESH: Diabetes Mellitus, Type 2/diagnosis, Internal Medicine, medicine, Gene, MESH: Hepatocyte Nuclear Factor 1-alpha/genetics, Monogenic Diabetes, MESH: Humans, MESH: Adult, medicine.disease, MESH: Male, MESH: Female, MESH: High-Throughput Nucleotide Sequencing, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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14
المؤلفون: Luana Mercuri, Susanna Morano, Maria Giovanna Scarale, Serena Pezzilli, Giuseppe Penno, Federica Alberico, Giorgio Sesti, Mauro Cignarelli, R. Di Paola, Monia Garofolo, Tiziana Filardi, M. Copetti, Sabrina Prudente, Vincenzo Trischitta, Olga Lamacchia, Gaia Chiara Mannino
المساهمون: Prudente, S., Di Paola, R., Pezzilli, S., Garofolo, M., Lamacchia, O., Filardi, T., Mannino, G. C., Mercuri, L., Alberico, F., Scarale, M. G., Sesti, G., Morano, S., Penno, G., Cignarelli, M., Copetti, M., Trischitta, V.
مصطلحات موضوعية: 0301 basic medicine, Oncology, Blood Glucose, Male, medicine.medical_specialty, Genotype, Molecular Medicine, Genetics, Pharmacology, Administration, Oral, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Locus (genetics), Genome-wide association study, Type 2 diabetes, Biology, Bioinformatics, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Hypoglycemic Agents, Genetic Predisposition to Disease, Allele, Alleles, Aged, Whites, Odds ratio, Middle Aged, medicine.disease, Confidence interval, Metformin, 030104 developmental biology, Phenotype, Diabetes Mellitus, Type 2, Pharmacogenetics, Insulin Receptor Substrate Proteins, Female, Genome-Wide Association Study
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15
المؤلفون: Eleonora Lauricella, Daniele Capocefalo, Tommaso Mazza, Serena Pezzilli, Hamza Dallali, Ornella Ludovico, Tommaso Biagini, Vincenzo Trischitta, Elide Miccinilli, Luana Mercuri, Pamela Piscitelli, Federica Alberico, Maria Giovanna Scarale, Massimo Carella, Sabrina Prudente
المساهمون: Pezzilli, S., Ludovico, O., Biagini, T., Mercuri, L., Alberico, F., Lauricella, E., Dallali, H., Capocefalo, D., Carella, M., Miccinilli, E., Piscitelli, P., Scarale, M. G., Mazza, T., Trischitta, V., Prudente, S.
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Endocrinology, Diabetes and Metabolism, Pedigree chart, Type 2 diabetes, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, Germinal Center Kinases, 03 medical and health sciences, symbols.namesake, Diabetes mellitus, Internal Medicine, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Hepatocyte Nuclear Factor 1-alpha, Gene, Aged, Hepatocyte Nuclear Factor 1-beta, Genetics, Sanger sequencing, Homeodomain Proteins, Mutation, Adult patients, High-Throughput Nucleotide Sequencing, monogenic diabetes, NGS, MODY, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Diabetes Mellitus, Type 2, Hepatocyte Nuclear Factor 4, Hyperglycemia, NGS, monogenic diabetes, MODY, symbols, Trans-Activators, Female
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16
المؤلفون: Barbara Bucci, Serena Pezzilli, Antonio Stigliano, Vincenzo Toscano, Federica Innocenti, Rita Canipari, Lidia Cerquetti
المصدر: The Journal of endocrinology. 234(1)
مصطلحات موضوعية: Anti-Mullerian Hormone, Ovarian Granulosa Cell, Endocrinology, Diabetes and Metabolism, Gene Expression, Apoptosis, Follicle-stimulating hormone, Mice, 0302 clinical medicine, Endocrinology, Ovarian Follicle, Mitotane, mitotane, adrenocortical carcinoma, ovary, fertility, media_common, Granulosa Cell Tumor, biology, Steroid 17-alpha-Hydroxylase, Anti-Müllerian hormone, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, medicine.drug, Ovulation, medicine.medical_specialty, Antineoplastic Agents, Hormonal, media_common.quotation_subject, 030209 endocrinology & metabolism, Ovary, 03 medical and health sciences, Internal medicine, Cell Line, Tumor, medicine, Animals, Humans, Cholesterol Side-Chain Cleavage Enzyme, RNA, Messenger, Ovarian follicle, Cell Proliferation, Granulosa Cells, business.industry, Antral follicle, Fertility, Fertilization, biology.protein, Follicle Stimulating Hormone, business
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17Academic Journal
المؤلفون: Sabrina Prudente, Rosa Di Paola, Massimiliano Copetti, Daniela Lucchesi, Olga Lamacchia, Serena Pezzilli, Luana Mercuri, Federica Alberico, Laura Giusti, Monia Garofolo, Giuseppe Penno, Mauro Cignarelli, Salvatore De Cosmo, Vincenzo Trischitta
المساهمون: Prudente, Sabrina, Di Paola, Rosa, Copetti, Massimiliano, Lucchesi, Daniela, Lamacchia, Olga, Pezzilli, Serena, Mercuri, Luana, Alberico, Federica, Giusti, Laura, Garofolo, Monia, Penno, Giuseppe, Cignarelli, Mauro, De Cosmo, Salvatore, Trischitta, Vincenzo
مصطلحات موضوعية: Uromodulin, Kidney Diseases, Type 2 diabetes
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/27448670; info:eu-repo/semantics/altIdentifier/wos/WOS:000412339300017; volume:32; issue:10; firstpage:1718; lastpage:1722; numberofpages:5; journal:NEPHROLOGY DIALYSIS TRANSPLANTATION; http://hdl.handle.net/11573/1025081; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85030664894