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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 5, 2024. (Total: 232220Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Kidney Diseases and PKD2[original query]
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
Journal of the American Society of Nephrology : JASN 2017 10 29 (1): 13-23.
Cornec-Le Gall Emilie, Torres Vicente E, Harris Peter
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.
Clinical and experimental nephrology 2019 4 23 (8): 1022-1030.
Mochizuki Toshio, Teraoka Atsuko, Akagawa Hiroyuki, Makabe Shiho, Akihisa Taro, Sato Masayo, Kataoka Hiroshi, Mitobe Michihiro, Furukawa Toru, Tsuchiya Ken, Nitta Kosa
High Serum Phosphate Level as a Risk Factor to Determine Renal Prognosis in Autosomal Dominant Polycystic Kidney Disease: A Retrospective Study.
Medicines (Basel, Switzerland) 2020 3 7 (3): .
Sato Masayo, Kataoka Hiroshi, Ushio Yusuke, Manabe Shun, Watanabe Saki, Akihisa Taro, Makabe Shiho, Yoshida Rie, Iwasa Naomi, Mitobe Michihiro, Hanafusa Norio, Tsuchiya Ken, Nitta Kosaku, Mochizuki Tosh
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Journal of nephrology 2021 5 34 (6): 1855-1874.
Zacchia Miriam, Blanco Francesca Del Vecchio, Trepiccione Francesco, Blasio Giancarlo, Torella Annalaura, Melluso Andrea, Capolongo Giovanna, Pollastro Rosa Maria, Piluso Giulio, Di Iorio Valentina, Simonelli Francesca, Viggiano Davide, Perna Alessandra, Nigro Vincenzo, Capasso Giovambattis
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Genes 2023 6 14 (6): .
Ersilia Nigro, Maria Amicone, Daniela D'Arco, Gina Sellitti, Oriana De Marco, Maria Guarino, Eleonora Riccio, Antonio Pisani, Aurora Danie
Polygenic risk affects the penetrance of monogenic kidney disease.
medRxiv : the preprint server for health sciences 2023 5 .
Atlas Khan, Ning Shang, Jordan G Nestor, Chunhua Weng, George Hripcsak, Peter C Harris, Ali G Gharavi, Krzysztof Kiryl
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