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1دورية أكاديمية
المؤلفون: Cuka, E.Aff1, IDs40620021009738_cor1, Vespa, M., Joli, G., Manunta, P., Sciarrone Alibrandi, T. M.
المصدر: Journal of Nephrology. 35(2):671-674
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المؤلفون: Senum, S.R., Li, Y.M., Benson, K.A., Joli, G., Olinger, E., Lavu, S., Madsen, C.D., Gregory, A.V., Neatu, R., Kline, T.L., Audrezet, M.P., Outeda, P., Nau, C.B., Meijer, E., Ali, H., Steinman, T.I., Mrug, M., Phelan, P.J., Watnick, T.J., Peters, D.J.M., Ong, A.C.M., Conlon, P.J., Perrone, R.D., Gall, E.C.L., Hogan, M.C., Torres, V.E., Saver, J.A., Harris, P.C., Genomics England Res Consortium, HALT PKD, CRISP, DIPAK, ADPKD Modifier, TAME PKD studies
المساهمون: Groningen Kidney Center (GKC), Mayo Clinic [Rochester], Royal College of Surgeons in Ireland (RCSI), IRCCS San Raffaele Scientific Institute [Milan, Italie], Newcastle University [Newcastle], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), University of Maryland School of Medicine, University of Maryland System, University of Groningen [Groningen], Kuwait University, Beth Israel Deaconess Medical Center [Boston] (BIDMC), Harvard Medical School [Boston] (HMS), University of Alabama at Birmingham [ Birmingham] (UAB), Royal Infirmary of Edinburgh, Leiden University Medical Center (LUMC), The Medical School - The University of Sheffield [U.K.], Tufts University School of Medicine [Boston], PODEUR, Sophie
المصدر: Am J Hum Genet
American Journal of Human Genetics, 109(1), 136-156. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2022, 109 (1), pp.136-156. ⟨10.1016/j.ajhg.2021.11.016⟩مصطلحات موضوعية: Adult, Male, DNA Copy Number Variations, [SDV]Life Sciences [q-bio], PKD1, urologic and male genital diseases, DIAGNOSIS, Kidney Function Tests, DISEASE, Article, short rib thoracic dysplasia, monoallelic cystic disease, IFT140, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Cilia, Genetic Testing, Genetics (clinical), CYST FORMATION, Alleles, Genetic Association Studies, ADPKD, Aged, Biological Specimen Banks, intraflagellar transport, polycystic kidney disease, COMPLEX, urogenital system, MUTATIONS, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Middle Aged, Polycystic Kidney, Autosomal Dominant, GENE, female genital diseases and pregnancy complications, RENAL CYSTS, United Kingdom, Pedigree, [SDV] Life Sciences [q-bio], ciliopathy, Phenotype, Amino Acid Substitution, Mutation, Female, DEFINES, Carrier Proteins
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183928f9db35fd45f0abc517af272c58
https://pubmed.ncbi.nlm.nih.gov/34890546 -
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المؤلفون: E Cuka, G Joli, M Vespa, T M Sciarrone Alibrandi, P Manunta
المساهمون: Cuka, E., Vespa, M., Joli, G., Manunta, P., Sciarrone Alibrandi, T. M.
المصدر: Journal of nephrology. 35(2)
مصطلحات موضوعية: Nephrology, Adult, Male, endocrine system, medicine.medical_specialty, Vasopressin, Sympathetic nervous system, Adolescent, medicine.drug_class, 030232 urology & nephrology, Tolvaptan, Adrenocorticotropic hormone, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Limbic system, Internal medicine, medicine, Polycystic kidney disease, Humans, Hyperhidrosis, Sympathectomy, ADPKD, integumentary system, business.industry, Vasopressin antagonists, musculoskeletal system, medicine.disease, Hand, Polycystic Kidney, Autosomal Dominant, body regions, medicine.anatomical_structure, Treatment Outcome, Anesthesia, Arginine vasopressin, business, hormones, hormone substitutes, and hormone antagonists, Vasopressin Antagonists, Palmar hyperhidrosis, medicine.drug