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المؤلفون: Andrea Crosignani, Pier Maria Battezzati, Carla Colombo, Marie Louise Syrén, Massimo Zuin, Emanuela Vassallo, D. Degiorgio, Domenico Bordo, Domenico A. Coviello
المصدر: Journal of Gastroenterology. 51:271-280
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ATP Binding Cassette Transporter, Subfamily B, Adolescent, Cholangitis, Sclerosing, Cholestasis, Intrahepatic, Gastroenterology, Primary sclerosing cholangitis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Primary biliary cirrhosis, Cholestasis, Internal medicine, medicine, Humans, Amino Acid Sequence, Age of Onset, Child, Aged, Liver Cirrhosis, Biliary, business.industry, Hepatobiliary disease, Progressive familial intrahepatic cholestasis, Middle Aged, ABCB4, medicine.disease, Pregnancy Complications, Phenotype, Case-Control Studies, 030220 oncology & carcinogenesis, Chronic Disease, Mutation, Female, 030211 gastroenterology & hepatology, Age of onset, business, Sequence Alignment, Cholestasis of pregnancy
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المؤلفون: Sara Missaglia, Mauro Castagnetta, Cristina Mora, Patrizia Dell'Era, Elena Maria Pennisi, Rosalind A. Coleman, Domenico Coviello, D. Degiorgio, Daniela Tavian, Corrado Angelini
المصدر: Molecular Genetics and Metabolism
مصطلحات موضوعية: 0301 basic medicine, Pluripotent Stem Cells, Endocrinology, Diabetes and Metabolism, Cellular differentiation, Lipolysis, Myopathy, Cell Culture Techniques, iPSCs, Lipid droplets, Lipid metabolism, NLSDM, PNPLA2, Biology, Biochemistry, Models, Biological, Lipid Metabolism, Inborn Errors, Article, 03 medical and health sciences, Endocrinology, Muscular Diseases, Lipid droplet, Genetics, medicine, Humans, Induced pluripotent stem cell, Settore BIO/10 - BIOCHIMICA, Molecular Biology, Triglycerides, Cell Differentiation, Lipase, Fibroblasts, medicine.disease, 3. Good health, Cell biology, Neutral lipid storage disease, 030104 developmental biology, Adipose triglyceride lipase, Mutation, medicine.symptom, Stem cell
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المؤلفون: Carla Colombo, Gigliola Montorfano, Paola Antonia Corsetto, Angela Maria Rizzo, Serena Sansanelli, Maria Pia Rastaldi, Manuela Seia, Domenico A. Coviello, Domenico Bordo, Daniela Tavian, D. Degiorgio, Min Li, L. Costantino, Rossella Tomaiuolo
المساهمون: Dario, Degiorgio, Paola A., Corsetto, Angela M., Rizzo, Carla, Colombo, Manuela, Seia, Lucy, Costantino, Gigliola, Montorfano, Tomaiuolo, Rossella, Domenico, Bordo, Serena, Sansanelli, Min, Li, Daniela, Tavian, Maria P., Rastaldi, Domenico A., Coviello
مصطلحات موضوعية: Adult, Male, Models, Molecular, lipid asymmetry, ATP Binding Cassette Transporter, Subfamily B, Protein Conformation, Mutant, nucleotide binding domain, Gene Expression, Biology, medicine.disease_cause, Transfection, Article, Cell Line, Cell membrane, Gene expression, Protein targeting, medicine, Genetics, Humans, Point Mutation, floppase activity, Secretion, Protein Interaction Domains and Motifs, Settore BIO/10 - BIOCHIMICA, P-Glycoproteins, phosphatidylcholine, Genetics (clinical), Mutation, biliary cholesterol, Point mutation, Cell Membrane, Infant, ABCB4, Middle Aged, Molecular biology, medicine.anatomical_structure, Protein Binding, Genetics (clinical),MDR3, Child, Preschool, MDR3, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2c8f7dcda656e3f9f371e5a3d69b585
http://hdl.handle.net/11567/858466 -
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المؤلفون: M. Bertelli, Sandro Michelini, N. Parrinello, P.E. Maltese, D. Degiorgio
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Pathology, Aagenaes syndrome, medicine.diagnostic_test, business.industry, Secondary lymphedema, medicine.disease, humanities, body regions, Hennekam syndrome, Lymphedema, hemic and lymphatic diseases, Internal medicine, medicine, Genetic predisposition, Medical genetics, Primary lymphedema, medicine.symptom, business, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a064f9cfaf3f0f6aa9cd58bd77a85d56
https://doi.org/10.1016/b978-0-12-801238-3.00143-4 -
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المؤلفون: D. DEGIORGIO, C. COLOMBO, L. PORCARO, M.SEIA, V. BENNATO, TOMAIUOLO R, F. BELLITTI, G. CASTALDO, R. IORIO, G. MAGGIORE, G. TORRE, A. FOLLESA, D.A. COVIELLO.
المساهمون: D., Degiorgio, C., Colombo, L., Porcaro, M., Seia, V., Bennato, Tomaiuolo, R, F., Bellitti, G., Castaldo, R., Iorio, G., Maggiore, G., Torre, A., Follesa, D. A., Coviello.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10495::2af979b2d5506deaa447f09067fa864b
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المؤلفون: S, Michelini, D, Degiorgio, M, Cestari, D, Corda, M, Ricci, M, Cardone, A, Mander, L, Famoso, E, Contini, R, Serrani, L, Pinelli, S, Cecchin, M, Bertelli
المصدر: Lymphology. 45(1)
مصطلحات موضوعية: Male, DNA Mutational Analysis, Forkhead Transcription Factors, Exons, Vascular Endothelial Growth Factor Receptor-3, Polymerase Chain Reaction, Young Adult, Phenotype, Italy, Case-Control Studies, Mutation, Humans, Female, Genetic Predisposition to Disease, Lymphedema, Age of Onset, Lymphangiogenesis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::04cac8790e53a587749123b0096d6d77
https://pubmed.ncbi.nlm.nih.gov/22768467 -
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المؤلفون: Laura Porretti, Valentina Paracchini, Stefano Castellani, Carla Colombo, Annalucia Carbone, S. Mazzucchelli, Sante Di Gioia, D. Degiorgio, Massimo Conese, Manuela Seia, Federico Colombo
المصدر: Journal of Biomedicine and Biotechnology
Journal of Biomedicine and Biotechnology, Vol 2012 (2012)مصطلحات موضوعية: Pathology, medicine.medical_specialty, Article Subject, Cystic Fibrosis, Cells, lcsh:Biotechnology, Health, Toxicology and Mutagenesis, Cellular differentiation, lcsh:Medicine, Cystic Fibrosis Transmembrane Conductance Regulator, Respiratory Mucosa, Cystic fibrosis, Flow cytometry, lcsh:TP248.13-248.65, Genetics, medicine, Humans, Toxicology and Mutagenesis, Amnion, Molecular Biology, Cells, Cultured, Cultured, Mesenchymal Stromal Cells, biology, medicine.diagnostic_test, Tissue Engineering, Medicine (all), lcsh:R, Mesenchymal stem cell, Cell Differentiation, Coculture Techniques, Epithelial Cells, Hepatocytes, Biotechnology, Molecular Medicine, Mesenchymal Stem Cells, General Medicine, Apical membrane, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Cell biology, medicine.anatomical_structure, Health, biology.protein, Respiratory epithelium, Research Article
وصف الملف: text/xhtml
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9ca03288a2df608f52c0c6009bf025
http://europepmc.org/articles/PMC3270433 -
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المؤلفون: Domenico A. Coviello, Luigi Porcaro, Valentina Paracchini, D. Degiorgio, Giovanna Pizzamiglio, Carla Colombo, L. Costantino, Maddalena Zanardelli, P. Capasso, Manuela Seia, L. Claut
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Cystic Fibrosis, mRNA, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, Splicing, chemistry.chemical_compound, Exon, Humans, Point Mutation, Pediatrics, Perinatology, and Child Health, RNA, Messenger, CFTR, Allele, Pseudo-exon, Genetics, Messenger RNA, Splice site mutation, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Point mutation, Intron, Exons, Molecular biology, Introns, chemistry, Amino Acid Substitution, Pediatrics, Perinatology and Child Health, RNA splicing, RNA Splice Sites, DNA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2570d76af88a4f04de4566960e81c096
http://hdl.handle.net/11567/540293 -
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المؤلفون: Patrizia Formigoni, Maurizio Travi, Paola Primignani, Livia Garavelli, Luca Trotta, Alessandra Murri, Francesca Sironi, Cristina Curcio, Domenico Cuda, Pierangela Castorina, D. Degiorgio, Faustina Lalatta, Umberto Ambrosetti, Antonio Cesarani, Donatella Milani, Domenico A. Coviello, Chiara Radaelli
المصدر: Genetic testing and molecular biomarkers. 13(2)
مصطلحات موضوعية: Heterozygote, Genotype, Hearing loss, Genes, Recessive, medicine.disease_cause, Severity of Illness Index, Connexins, White People, Cohort Studies, Age Distribution, Audiometry, Gene Frequency, otorhinolaryngologic diseases, medicine, Missense mutation, Humans, Allele, Hearing Loss, Allele frequency, Genetics (clinical), Alleles, Genes, Dominant, Genetics, Mutation, Polymorphism, Genetic, biology, medicine.diagnostic_test, Homozygote, General Medicine, Exons, Sequence Analysis, DNA, Connexin 26, Italy, biology.protein, medicine.symptom, GJB6
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb7207d1ccccc1efe7ca81d5ca4301c
https://pubmed.ncbi.nlm.nih.gov/19371219 -
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المؤلفون: Ausilia Elce, Carla Colombo, Valentina Motta, Giuseppe Castaldo, Rossella Tomaiuolo, Valeria Raia, Andrea A. Baccarelli, D. Degiorgio, Domenico A. Coviello, Manuela Seia
المساهمون: Tomaiuolo, Rossella, Degiorgio, D, Coviello, Da, Baccarelli, A, Elce, Ausilia, Raia, Valeria, Motta, V, Seia, M, Castaldo, Giuseppe, Colombo, C.
المصدر: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 41(11)
مصطلحات موضوعية: Adult, Male, ATP Binding Cassette Transporter, Subfamily B, Hemochromatosis (HFE) gene, Adolescent, Cystic Fibrosis, MBL2 gene, Transferrin receptor, Cystic fibrosis, Mannose-Binding Lectin, Polymorphism, Single Nucleotide, Liver disease, Young Adult, Serpin 1 gene, medicine, Genotype phenotype correlation, Humans, Hemochromatosis, Mannan-binding lectin, Modifier gene, Hepatology, biology, business.industry, Liver Diseases, Haplotype, Gastroenterology, ABCB4, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Modifier genes, Phenotype, Haplotypes, Cystic fibrosi, ABCB4 gene, Cancer research, biology.protein, Female, business
وصف الملف: STAMPA
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