Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Carsten Bergmann

Showing results (171-180 of 228) with videos related to

Pageof 23
Sort By:
The Journal of Clinical Investigation|May 2, 2022
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathyHande Aypek, Christoph Krisp, Shun Lu, et al.
European Journal of Human Genetics : EJHG|April 2, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendationsWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.
European Journal of Human Genetics : EJHG|October 16, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
American Journal of Human Genetics|June 15, 2007
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel, Andreas Roos, Tine Deconinck, et al.
Journal of the American Society of Nephrology : JASN|May 21, 2017
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase <i>ε</i>Karolis Azukaitis, Eva Simkova, Mohammad Abdul Majid, et al.
Nature Reviews. Nephrology|March 5, 2024
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working GroupDjalila Mekahli, Roman-Ulrich Müller, Matko Marlais, et al.
Human Molecular Genetics|February 19, 2013
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionValeska Frank, Sandra Habbig, Malte P Bartram, et al.
Kidney International|September 2, 2019
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndromeAshish K Solanki, Eugen Widmeier, Ehtesham Arif, et al.
Journal of the American Society of Nephrology : JASN|November 17, 2019
<i>TBC1D8B</i> Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic SyndromeLina L Kampf, Ronen Schneider, Lea Gerstner, et al.
Pageof 23

Showing results (171-180 of 228) with videos related to

Sort By:
Pageof 23
The Journal of Clinical Investigation|May 2, 2022
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathyHande Aypek, Christoph Krisp, Shun Lu, et al.
European Journal of Human Genetics : EJHG|April 2, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendationsWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.
European Journal of Human Genetics : EJHG|October 16, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.
American Journal of Human Genetics|June 15, 2007
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel, Andreas Roos, Tine Deconinck, et al.
Journal of the American Society of Nephrology : JASN|May 21, 2017
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase <i>ε</i>Karolis Azukaitis, Eva Simkova, Mohammad Abdul Majid, et al.
Nature Reviews. Nephrology|March 5, 2024
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working GroupDjalila Mekahli, Roman-Ulrich Müller, Matko Marlais, et al.
Human Molecular Genetics|February 19, 2013
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionValeska Frank, Sandra Habbig, Malte P Bartram, et al.
Kidney International|September 2, 2019
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndromeAshish K Solanki, Eugen Widmeier, Ehtesham Arif, et al.
Journal of the American Society of Nephrology : JASN|November 17, 2019
<i>TBC1D8B</i> Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic SyndromeLina L Kampf, Ronen Schneider, Lea Gerstner, et al.
Pageof 23