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1دورية أكاديمية
المؤلفون: Sofia Jorge, Kendrah Kidd, Petr Vylet’al, Estela Nogueira, Lauren Martin, Katrice Howard, Veronika Barešová, Kateřina Hodaňová, Aleš Hnízda, Oana Moldovan, Catarina Silveira, Ana Margarida Coutinho, José António Lopes, Anthony J. Bleyer, Stanislav Kmoch, Martina Živná
المصدر: Kidney International Reports, Vol 8, Iss 5, Pp 1112-1116 (2023)
مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
المصدر: Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
مصطلحات موضوعية: autosomal dominant uromodulin kidney disease, genotype, phenotype, rs4293393, uromodulin, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, G. Venkat-Raman
المصدر: BMC Nephrology, Vol 19, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: Genetic kidney disease, Autosomal dominant tubulointerstitial kidney disease, UMOD, Prevalence, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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المؤلفون: Martina Živná, Kendrah O. Kidd, Veronika Barešová, Helena Hůlková, Stanislav Kmoch, Anthony J. Bleyer
المصدر: American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 190(3), 309-324. (2022)
مصطلحات موضوعية: Adult, MUC1, Autosomal Dominant Tubulointerstitial Kidney Disease, Middle Aged, UMOD, Young Adult, REN, Uromodulin, Mutation, Genetics, Humans, Genetic Testing, Renal Insufficiency, Chronic, Genetics (clinical), Aged
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d214d3cd813bbb96518c22302edc309
https://pubmed.ncbi.nlm.nih.gov/36250282 -
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المؤلفون: Seth L. Alper, Rebecca P. Hughey, Hannah C. Ainsworth, Victoria Robins, Petr Vylet'al, Tomáš Zima, Alena Vrbacká, Kateřina Hodaňová, Hana Hartmannová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Carl D. Langefeld, Abbigail Taylor, Drahomira Springer, Katrice Howard, Maegan Harden, Anna Přistoupilová, Stanislav Kmoch, Ibrahim Bitar, Steven M. Harrison, Niall J. Lennon, Lauren Martin, Veronika Baresova
المصدر: American Journal of Nephrology. 52:378-387
مصطلحات موضوعية: CA15-3, medicine.medical_specialty, business.industry, Mucin, Renal function, medicine.disease, Endocrinology, Breast cancer, Nephrology, Internal medicine, Genotype, medicine, Allele, business, MUC1, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2cd96461c335888b322fa024cce5a37c
https://doi.org/10.1159/000515810 -
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المؤلفون: Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711 -
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المؤلفون: Victoria Robins, Maegan Harden, Anna Greka, Miroslav Votruba, Alese Hunt, Petr Vyleťal, Sri Vidya, Hana Hartmannová, Shahriar Moossavi, Georgeanna Tsoumas, Brendan Blumenstiel, Kateřina Hodaňová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Annie Santi, Marwan Abbas, Lauren Martin, Stanislav Kmoch, Elizabeth Swain, Abbigail Taylor, Ebun Akinbola
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Referral, uromodulin, education, Medical laboratory, rare disease, 030105 genetics & heredity, Zip code, Article, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Referral and Consultation, Genetics (clinical), Retrospective Studies, Genetic testing, Internet, Self Referral, medicine.diagnostic_test, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, autosomal dominant tubulo-interstitial kidney disease, 3. Good health, 030104 developmental biology, Family medicine, Female, Kidney Diseases, business, mucin-1, Kidney disease, Rare disease
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المؤلفون: Elhussein A. E. Elhassan, Susan L. Murray, Dervla M. Connaughton, Claire Kennedy, Sarah Cormican, Cliona Cowhig, Caragh Stapleton, Mark A. Little, Kendrah Kidd, Anthony J. Bleyer, Martina Živná, Stanislav Kmoch, Neil K. Fennelly, Brendan Doyle, Anthony Dorman, Matthew D. Griffin, Liam Casserly, Peter C. Harris, Friedhelm Hildebrandt, Gianpiero L. Cavalleri, Katherine A. Benson, Peter J. Conlon
المصدر: Journal of nephrology. 35(6)
مصطلحات موضوعية: Adult, Young Adult, TRPP Cation Channels, Nephrology, Mutation, Humans, Genetic Testing, Prospective Studies, Middle Aged, Renal Insufficiency, Chronic, Kidney, Polycystic Kidney, Autosomal Dominant
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المؤلفون: Katherine A. Benson, Brendan Doyle, Claire Kennedy, C. Foley, Anthony Dorman, Neil K. Fennelly, Patrick O'Kelly, Peter J. Conlon, Dervla M. Connaughton, Mark A. Little, Eoin T. Conlon, Anthony J. Bleyer, Peter Lavin, Stanislav Kmoch, Sarah Cormican, Kendrah Kidd, Gianpiero L. Cavalleri, Susan L. Murray, Martina Živná
المصدر: Renal Failure, Vol 41, Iss 1, Pp 832-841 (2019)
Renal Failureمصطلحات موضوعية: Male, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, medicine.disease_cause, 0302 clinical medicine, Prevalence, urinary smear, Exome sequencing, Genes, Dominant, Mutation, medicine.diagnostic_test, General Medicine, Middle Aged, HNF1B, 3. Good health, Kidney Tubules, Nephrology, Cohort, Female, Adult, medicine.medical_specialty, Urinary system, frameshift, Frameshift mutation, 03 medical and health sciences, muc-1, Internal medicine, adtkd, Uromodulin, medicine, Humans, Genetic Testing, Genetic testing, Aged, Hepatocyte Nuclear Factor 1-beta, business.industry, Mucin-1, hnf-1b, medicine.disease, Diseases of the genitourinary system. Urology, Cross-Sectional Studies, Clinical Study, Kidney Failure, Chronic, RC870-923, genetic, business, Ireland, umod, chronic kidney disease, Kidney disease
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المؤلفون: Kendrah Kidd, Benjamin Cochran, Angela G Niehaus, Stanislav Kmoch, Alex Bonnecaze, Anthony J. Bleyer, Tereza Kovačíková, Gowrie Balasubraminiam, Amret T. Hawfield, Martina Živná, Aleš Hnízda, Kateřina Hodaňová, Irene Ceballos-Picot
المصدر: Clinical Nephrology. 90:296-301
مصطلحات موضوعية: Male, medicine.medical_specialty, Antimetabolites, Allopurinol, medicine.medical_treatment, Adenine Phosphoribosyltransferase, 030232 urology & nephrology, Adenine phosphoribosyltransferase, Urology, Renal function, 030204 cardiovascular system & hematology, Nephropathy, Kidney Calculi, 03 medical and health sciences, 0302 clinical medicine, Urolithiasis, medicine, Humans, Renal Insufficiency, Chronic, Dialysis, Kidney, business.industry, Phosphoribosyl transferase, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Nephrology, Nephritis, Interstitial, business, Metabolism, Inborn Errors, Glomerular Filtration Rate, medicine.drug, Kidney disease