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Bernt Popp

Showing results (21-30 of 86) with videos related to

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European Journal of Medical Genetics|November 15, 2022
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delayMelissa Rieger, Sébastien Moutton, Sarah Verheyen, et al.
Human Molecular Genetics|November 5, 2021
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulationHannah Schwarz, Bernt Popp, Rannar Airik, et al.
Behavioral and Brain Functions : BBF|May 31, 2013
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B geneInga Freunscht, Bernt Popp, Rainer Blank, et al.
Clinical Genetics|October 3, 2020
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrumMelanie Föhrenbach, Rami Abou Jamra, Arndt Borkhardt, et al.
European Journal of Human Genetics : EJHG|September 13, 2022
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease studyBernt Popp, Arif B Ekici, Karl X Knaup, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 27, 2025
CAKUT subtypes determine the rate of progression to kidney failure - an adult patient cohort studyCharlotte Hammett, Friederike Petzold, Sarah Stopp, et al.
BMC Genomics|November 8, 2021
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studiesAkhil Velluva, Maximillian Radtke, Susanne Horn, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
Human Pathology|April 25, 2018
SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patientsAbbas Agaimy, Mahul B Amin, Anthony J Gill, et al.
Frontiers in Immunology|February 13, 2023
Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantationClaudia Lehmann, Sarah Pehnke, Antje Weimann, et al.
Pageof 9

Showing results (21-30 of 86) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|November 15, 2022
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delayMelissa Rieger, Sébastien Moutton, Sarah Verheyen, et al.
Human Molecular Genetics|November 5, 2021
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulationHannah Schwarz, Bernt Popp, Rannar Airik, et al.
Behavioral and Brain Functions : BBF|May 31, 2013
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B geneInga Freunscht, Bernt Popp, Rainer Blank, et al.
Clinical Genetics|October 3, 2020
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrumMelanie Föhrenbach, Rami Abou Jamra, Arndt Borkhardt, et al.
European Journal of Human Genetics : EJHG|September 13, 2022
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease studyBernt Popp, Arif B Ekici, Karl X Knaup, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 27, 2025
CAKUT subtypes determine the rate of progression to kidney failure - an adult patient cohort studyCharlotte Hammett, Friederike Petzold, Sarah Stopp, et al.
BMC Genomics|November 8, 2021
Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studiesAkhil Velluva, Maximillian Radtke, Susanne Horn, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
Human Pathology|April 25, 2018
SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patientsAbbas Agaimy, Mahul B Amin, Anthony J Gill, et al.
Frontiers in Immunology|February 13, 2023
Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantationClaudia Lehmann, Sarah Pehnke, Antje Weimann, et al.
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