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Detlef Bockenhauer

Showing results (171-180 of 233) with videos related to

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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 21, 2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1Myrte Daenen, Marguerite Hureaux, Emma Ashton, et al.
Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, et al.
The Journal of Pediatrics|April 29, 2017
Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney DiseaseLauren S H Chong, Benedicte Sautenet, Allison Tong, et al.
Kidney International|February 6, 2018
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathiesEmma J Ashton, Anne Legrand, Valerie Benoit, et al.
American Journal of Human Genetics|November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual DisabilityKarl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.
JAMA Pediatrics|December 20, 2021
Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical TrialMartin T Christian, Nicholas J A Webb, Samir Mehta, et al.
Health Technology Assessment (Winchester, England)|January 21, 2022
Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCTMartin T Christian, Nicholas Ja Webb, Rebecca L Woolley, et al.
Pharmacoeconomics - Open|June 22, 2022
Economic Evaluation of Using Daily Prednisolone versus Placebo at the Time of an Upper Respiratory Tract Infection for the Management of Children with Steroid-Sensitive Nephrotic Syndrome: A Model-Based AnalysisNafsika Afentou, Emma Frew, Samir Mehta, et al.
Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.
Nature Reviews. Nephrology|February 5, 2025
Publisher Correction: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Pageof 24

Showing results (171-180 of 233) with videos related to

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Pageof 24
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 21, 2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1Myrte Daenen, Marguerite Hureaux, Emma Ashton, et al.
Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, et al.
The Journal of Pediatrics|April 29, 2017
Range and Heterogeneity of Outcomes in Randomized Trials of Pediatric Chronic Kidney DiseaseLauren S H Chong, Benedicte Sautenet, Allison Tong, et al.
Kidney International|February 6, 2018
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathiesEmma J Ashton, Anne Legrand, Valerie Benoit, et al.
American Journal of Human Genetics|November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual DisabilityKarl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.
JAMA Pediatrics|December 20, 2021
Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical TrialMartin T Christian, Nicholas J A Webb, Samir Mehta, et al.
Health Technology Assessment (Winchester, England)|January 21, 2022
Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCTMartin T Christian, Nicholas Ja Webb, Rebecca L Woolley, et al.
Pharmacoeconomics - Open|June 22, 2022
Economic Evaluation of Using Daily Prednisolone versus Placebo at the Time of an Upper Respiratory Tract Infection for the Management of Children with Steroid-Sensitive Nephrotic Syndrome: A Model-Based AnalysisNafsika Afentou, Emma Frew, Samir Mehta, et al.
Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.
Nature Reviews. Nephrology|February 5, 2025
Publisher Correction: Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Pageof 24