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Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Lava, Sebastiano; Bianchetti, Mario Giovanni; Simonetti, Giacomo (2015). Salt intake in children and its consequences on blood pressure. Pediatric nephrology, 30(9), pp. 1389-1396. Springer 10.1007/s00467-014-2931-3
Ramelli, Vera; Ramelli, Gian Paolo; Lava, Sebastiano; Siegenthaler, Giordano M; Cantù, Marco; Bianchetti, Mario Giovanni; Ceschi, Alessandro (2014). Vitamin D status among children and adolescents on anticonvulsant drugs in southern Switzerland. Swiss medical weekly, 144, w13996. EMH Schweizerischer Ärzteverlag 10.4414/smw.2014.13996
Mariani, Luigi; Bianchetti, Mario G.; Schroth, Gerhard; Seiler, Rolf W. (1999). Cerebral aneurysms in patients with autosomal dominant polycystic kidney disease—to screen, to clip, to coil? Nephrology, dialysis, transplantation, 14(10), pp. 2319-2322. Oxford University Press 10.1093/ndt/14.10.2319
Peters, N.; Bettinelli, A.; Spicher, I.; Basilico, E.; Metta, M. G.; Bianchetti, M. G. (1995). Renal tubular function in children and adolescents with Gitelnian's syndrome, the hypocalciuric variant of Bartter's syndrome. Nephrology, dialysis, transplantation, 10(8), pp. 1313-1319. Oxford University Press 10.1093/ndt/10.8.1313
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Heinzelmann, Marc-Andrea; Kuehni, Claudia E; Roser, Katharina; Mader, Luzius; Laube, Guido F (2023). Health-related quality of life in adults after pediatric kidney failure in Switzerland. Pediatric nephrology, 38(5), pp. 1559-1568. Springer-Verlag 10.1007/s00467-022-05760-6
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Heinzelmann, Marc-Andrea; Kuehni, Claudia E; Roser, Katharina; Mader, Luzius; Laube, Guido F (2023). Health-related quality of life in adults after pediatric kidney failure in Switzerland. Pediatric nephrology, 38(5), pp. 1559-1568. Springer-Verlag 10.1007/s00467-022-05760-6
Maurer, Elisabeth; Neuhaus, Thomas J; Weitz, Marcus; Kuehni, Claudia E.; Laube, Guido F. (2020). Paediatric end-stage renal disease and renal replacement therapy in Switzerland: survival and treatment trends over four decades. Swiss medical weekly, 150, w20300. EMH Schweizerischer Ärzteverlag 10.4414/smw.2020.20300
Lava, Sebastiano; Bianchetti, Mario Giovanni; Simonetti, Giacomo (2015). Salt intake in children and its consequences on blood pressure. Pediatric nephrology, 30(9), pp. 1389-1396. Springer 10.1007/s00467-014-2931-3
Ramelli, Vera; Ramelli, Gian Paolo; Lava, Sebastiano; Siegenthaler, Giordano M; Cantù, Marco; Bianchetti, Mario Giovanni; Ceschi, Alessandro (2014). Vitamin D status among children and adolescents on anticonvulsant drugs in southern Switzerland. Swiss medical weekly, 144, w13996. EMH Schweizerischer Ärzteverlag 10.4414/smw.2014.13996
Heinzelmann, Marc-Andrea; Kuehni, Claudia E; Roser, Katharina; Mader, Luzius; Laube, Guido F (2023). Health-related quality of life in adults after pediatric kidney failure in Switzerland. Pediatric nephrology, 38(5), pp. 1559-1568. Springer-Verlag 10.1007/s00467-022-05760-6
Mariani, Luigi; Bianchetti, Mario G.; Schroth, Gerhard; Seiler, Rolf W. (1999). Cerebral aneurysms in patients with autosomal dominant polycystic kidney disease—to screen, to clip, to coil? Nephrology, dialysis, transplantation, 14(10), pp. 2319-2322. Oxford University Press 10.1093/ndt/14.10.2319
Maurer, Elisabeth; Neuhaus, Thomas J; Weitz, Marcus; Kuehni, Claudia E.; Laube, Guido F. (2020). Paediatric end-stage renal disease and renal replacement therapy in Switzerland: survival and treatment trends over four decades. Swiss medical weekly, 150, w20300. EMH Schweizerischer Ärzteverlag 10.4414/smw.2020.20300
Morr, Ann-Katrin; Mosimann, Beatrice; Tschumi, Sibylle; Surbek, Daniel; Raio, Luigi (2022). Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation. Zeitschrift für Geburtshilfe und Neonatologie, 226(2), pp. 98-103. Thieme 10.1055/a-1586-5493
Morr, Ann-Katrin; Mosimann, Beatrice; Tschumi, Sibylle; Surbek, Daniel; Raio, Luigi (2022). Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation. Zeitschrift für Geburtshilfe und Neonatologie, 226(2), pp. 98-103. Thieme 10.1055/a-1586-5493
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Morr, Ann-Katrin; Mosimann, Beatrice; Tschumi, Sibylle; Surbek, Daniel; Raio, Luigi (2022). Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation. Zeitschrift für Geburtshilfe und Neonatologie, 226(2), pp. 98-103. Thieme 10.1055/a-1586-5493
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Mariani, Luigi; Bianchetti, Mario G.; Schroth, Gerhard; Seiler, Rolf W. (1999). Cerebral aneurysms in patients with autosomal dominant polycystic kidney disease—to screen, to clip, to coil? Nephrology, dialysis, transplantation, 14(10), pp. 2319-2322. Oxford University Press 10.1093/ndt/14.10.2319
Mariani, Luigi; Bianchetti, Mario G.; Schroth, Gerhard; Seiler, Rolf W. (1999). Cerebral aneurysms in patients with autosomal dominant polycystic kidney disease—to screen, to clip, to coil? Nephrology, dialysis, transplantation, 14(10), pp. 2319-2322. Oxford University Press 10.1093/ndt/14.10.2319
Lava, Sebastiano; Bianchetti, Mario Giovanni; Simonetti, Giacomo (2015). Salt intake in children and its consequences on blood pressure. Pediatric nephrology, 30(9), pp. 1389-1396. Springer 10.1007/s00467-014-2931-3
Morr, Ann-Katrin; Mosimann, Beatrice; Tschumi, Sibylle; Surbek, Daniel; Raio, Luigi (2022). Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation. Zeitschrift für Geburtshilfe und Neonatologie, 226(2), pp. 98-103. Thieme 10.1055/a-1586-5493
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Morr, Ann-Katrin; Mosimann, Beatrice; Tschumi, Sibylle; Surbek, Daniel; Raio, Luigi (2022). Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation. Zeitschrift für Geburtshilfe und Neonatologie, 226(2), pp. 98-103. Thieme 10.1055/a-1586-5493
Hayes, Wesley; Tschumi, Sibylle; Ling, Simon C; Feber, Janusz; Kirschfink, Michael; Licht, Christoph (2015). Eculizumab hepatotoxicity in pediatric aHUS. Pediatric nephrology, 30(5), pp. 775-781. Springer 10.1007/s00467-014-2990-5
