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1
المؤلفون: Marisa Giani, Pierangela Castorina, Maurizio Clementi, A. La Manna, Francesco Brancati, Giorgia Mandrile, Rossella Tita, Dorella Del Prete, Sandro Feriozzi, E. Frate, Francesca Ariani, Nunzia Miglietti, Roberta Mancini, M. De Marchi, Daniela Giachino, G. Gai, Mirella Bruttini, Laura Dosa, A.R. Pinciaroli, Chiara Fallerini, Giorgio Piaggio, Alessandra Renieri, L. Diano, Francesca Mari, Elena Bresin, Gian Marco Ghiggeri
المصدر: Clinical Genetics. 86:252-257
مصطلحات موضوعية: Genetics, Inheritance (genetic algorithm), Pedigree chart, Disease, Biology, medicine.disease, DNA sequencing, Mutation (genetic algorithm), medicine, In patient, Alport syndrome, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bfc477fcc2bdf24b5e1fac4a79517690Test
https://doi.org/10.1111/cge.12258Test -
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المؤلفون: Serena Sinibaldi, Isabella Guzzo, Elena Bresin, Luca Dello Strologo, Rossella Piras, Francesco Emma
المصدر: Pediatric Transplantation. 17:E177-E181
مصطلحات موضوعية: Graft Rejection, Male, Hemolytic anemia, Thrombomodulin, Disease, Antibodies, Monoclonal, Humanized, urologic and male genital diseases, Young Adult, Postoperative Complications, Recurrence, hemic and lymphatic diseases, Atypical hemolytic uremic syndrome, medicine, Humans, Renal Insufficiency, Atypical Hemolytic Uremic Syndrome, Transplantation, Plasma Exchange, biology, business.industry, Eculizumab, medicine.disease, Kidney Transplantation, Hemolytic-Uremic Syndrome, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Alternative complement pathway, biology.protein, Steroids, Antibody, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dfa445b2c1ef0eb6749d469ae30f59cTest
https://doi.org/10.1111/petr.12151Test -
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المؤلفون: Stefano Corrà, Ornella De Prisco, Pier Franco Pignatti, Sandro Rossetti, Gabriella Restagno, Angelo O. Carbonara, Alberto Turco, Elena Bresin
المصدر: American Journal of Medical Genetics. 65:155-159
مصطلحات موضوعية: Adult, Genetic Markers, Male, TRPP Cation Channels, Adolescent, Genetic Linkage, Restriction Mapping, PKD1, Mutant, Nonsense mutation, Autosomal dominant polycystic kidney disease, ADPKD, gene mutation, Biology, Gene mutation, urologic and male genital diseases, Polymerase Chain Reaction, Exon, medicine, Humans, Missense mutation, Gene, Genetics (clinical), Genetics, Nucleic Acid Heteroduplexes, Proteins, Sequence Analysis, DNA, Middle Aged, Polycystic Kidney, Autosomal Dominant, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Pedigree, Italy, Mutation, Codon, Terminator, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2fb844e1c4a82949bce4cefb1260f1Test
https://doi.org/10.1002Test/(sici)1096-8628(19961016)65:2<155::aid-ajmg15>3.0.co;2-p