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Nature Reviews. Nephrology
|
January 5, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Jaap W Groothoff, Ella Metry, Lisa Deesker, et al.
Pediatric Nephrology (Berlin, Germany)
|
January 23, 2019
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry
Christine Okorn, Anne Goertz, Udo Vester, et al.
Kidney International Reports
|
February 14, 2022
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry
Elisabeth L Metry, Sander F Garrelfs, Hessel Peters-Sengers, et al.
American Journal of Human Genetics
|
November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
Karl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.
Kidney International Reports
|
October 21, 2024
Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1
Lisa J Deesker, Hazal A Karacoban, Elisabeth L Metry, et al.
Kidney International
|
March 28, 2014
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
Arif B Ekici, Thomas Hackenbeck, Vincent Morinière, et al.
Kidney International
|
October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Daniela A Braun, Markus Schueler, Jan Halbritter, et al.
Journal of Internal Medicine
|
November 21, 2025
New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model
Elena Di Pierro, Isabel Solares, Daniel Jericó, et al.
Human Mutation
|
December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
Gökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Kidney International
|
March 14, 2018
Single-nephron proteomes connect morphology and function in proteinuric kidney disease
Martin Höhne, Christian K Frese, Florian Grahammer, et al.
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of 11
Search research articles
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Showing results (81-90 of 105) with videos related to
Sort By:
Page
of 11
Nature Reviews. Nephrology
|
January 5, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Jaap W Groothoff, Ella Metry, Lisa Deesker, et al.
Pediatric Nephrology (Berlin, Germany)
|
January 23, 2019
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry
Christine Okorn, Anne Goertz, Udo Vester, et al.
Kidney International Reports
|
February 14, 2022
Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry
Elisabeth L Metry, Sander F Garrelfs, Hessel Peters-Sengers, et al.
American Journal of Human Genetics
|
November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
Karl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.
Kidney International Reports
|
October 21, 2024
Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1
Lisa J Deesker, Hazal A Karacoban, Elisabeth L Metry, et al.
Kidney International
|
March 28, 2014
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
Arif B Ekici, Thomas Hackenbeck, Vincent Morinière, et al.
Kidney International
|
October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Daniela A Braun, Markus Schueler, Jan Halbritter, et al.
Journal of Internal Medicine
|
November 21, 2025
New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model
Elena Di Pierro, Isabel Solares, Daniel Jericó, et al.
Human Mutation
|
December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype
Gökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Kidney International
|
March 14, 2018
Single-nephron proteomes connect morphology and function in proteinuric kidney disease
Martin Höhne, Christian K Frese, Florian Grahammer, et al.
Page
of 11