المؤلفون: Peter C. Harris, Sarah Khamis, Liam F. Casserly, Robert Carton, Dervla M. Connaughton, Claire Kennedy, Elhussein A. E. Elhassan, Edmund Gilbert, Katherine A. Benson, Sarah R. Senum, Kevin Yachnin, Sarah Cormican, Gianpiero L. Cavalleri, Susan L. Murray, Eoin T. Conlon, Paul V. O’Hara, Matthew D. Griffin, Shane Conlon, Peter J. Conlon, Sally Ann Lynch, Anne M. Molloy, Lawrence C. Brody

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Population, 030232 urology & nephrology, Renal function, Disease, Biology, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Polycystic kidney disease, Humans, Renal replacement therapy, Child, education, Genetics (clinical), Aged, 030304 developmental biology, Polycystic Kidney Diseases, 0303 health sciences, education.field_of_study, Variant type, Middle Aged, medicine.disease, Founder Effect, 3. Good health, Phenotype, Genetic Loci, Child, Preschool, Mutation, Mendelian inheritance, symbols, Medical genetics, Female, Ireland

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb683b6c098e5a13b6858922502a488c
https://doi.org/10.1038/s41431-020-00806-5

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 Failure

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d513ff49d65ffe8de0645c16fc44c7
https://doaj.org/article/b14e21a261104580bccc774c2f595a7f

المؤلفون: Patrick O'Kelly, Claire Kennedy, Peter J. Conlon, Katherine A. Benson, Stanislav Kmoch, Sarah Cormican, Gianpiero L. Cavalleri, Susan L. Murray, Anthony Dorman, Kendrah Kidd, Peter Lavin, Neil K. Fennelly, Brendan Doyle, Dervla M. Connaughton, Martina Živná, Mark A. Little, Eoin T. Conlon, Anthony J. Bleyer, Claire Foley

المصدر: Clinical transplantationREFERENCES. 34(2)

مصطلحات موضوعية: medicine.medical_specialty, Population, Disease, 030230 surgery, urologic and male genital diseases, Second transplant, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Uromodulin, medicine, Humans, In patient, education, Transplantation, education.field_of_study, business.industry, Graft Survival, Patient survival, medicine.disease, Polycystic Kidney, Autosomal Dominant, Kidney Transplantation, surgical procedures, operative, Renal transplant, Mutation, Kidney Failure, Chronic, 030211 gastroenterology & hepatology, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55b8b1ff14040b925f1f823274228c39
https://pubmed.ncbi.nlm.nih.gov/31958169