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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Cysts and SEC63[original query]
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
Human mutation 2006 Aug 27 (8): 830.
Waanders Esmé, te Morsche René H M, de Man Rob A, Jansen Jan B M J, Drenth Joost P
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
Liver international : official journal of the International Association for the Study of the Liver 2011 Jan 31 (1): 92-8.
Van Keimpema Loes, De Koning Daan B, Van Hoek Bart, Van Den Berg Aad P, Van Oijen Martijn G H, De Man Robert A, Nevens Frederik, Drenth Joost P
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
European journal of human genetics : EJHG 2016 Aug .
Wills Edgar S, Cnossen Wybrich R, Veltman Joris A, Woestenenk Rob, Steehouwer Marloes, Salomon Jody, Te Morsche René H M, Huch Meritxell, Hehir-Kwa Jayne Y, Banning Martijn J, Pfundt Rolph, Roepman Ronald, Hoischen Alexander, Drenth Joost P
Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease.
Annals of translational medicine 2021 2 9 (2): 120.
Wang Jiaru, Yang Huayu, Guo Ruohan, Sang Xinting, Mao Yil
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
JHEP reports : innovation in hepatology 2022 10 4 (11): 100579.
Sierks Dana, Schönauer Ria, Friedrich Anja, Hantmann Elena, de Fallois Jonathan, Linder Nikolas, Fischer Janett, Herber Adam, Bergmann Carsten, Berg Thomas, Halbritter J
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