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

Roser Torra

Showing results (71-80 of 161) with videos related to

Pageof 17
Sort By:
Pediatric Nephrology (Berlin, Germany)|October 29, 2013
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney diseasePaola Krall, Cristina Pineda, Patricia Ruiz, et al.
Stem Cell Research|November 19, 2017
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, et al.
Kidney International|July 9, 2003
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSandro Rossetti, Roser Torra, Eliecer Coto, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 17, 2007
Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1Bárbara Tazón-Vega, Mireia Vilardell, Laureano Pérez-Oller, et al.
Genes|June 27, 2024
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the <i>PHEX</i> GeneGloria Fraga, M Alba Herreros, Marc Pybus, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityGemma Bullich, Daniel Trujillano, Sheila Santín, et al.
Plos One|March 28, 2017
Cystatin C estimated glomerular filtration rate to assess renal function in early stages of autosomal dominant polycystic kidney diseaseLaia Sans, Aleksandar Radosevic, Claudia Quintian, et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia|September 6, 2016
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapyMónica Furlano, Yaima Barreiro, Teresa Martí, et al.
Kidney International|January 13, 2012
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutationsJohanna Temme, Frederick Peters, Katharina Lange, et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia|February 1, 2013
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus documentJosep M Campistol, Manuel Arias, Gema Ariceta, et al.
Pageof 17

Showing results (71-80 of 161) with videos related to

Sort By:
Pageof 17
Pediatric Nephrology (Berlin, Germany)|October 29, 2013
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney diseasePaola Krall, Cristina Pineda, Patricia Ruiz, et al.
Stem Cell Research|November 19, 2017
Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, et al.
Kidney International|July 9, 2003
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSandro Rossetti, Roser Torra, Eliecer Coto, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 17, 2007
Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1Bárbara Tazón-Vega, Mireia Vilardell, Laureano Pérez-Oller, et al.
Genes|June 27, 2024
A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the <i>PHEX</i> GeneGloria Fraga, M Alba Herreros, Marc Pybus, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severityGemma Bullich, Daniel Trujillano, Sheila Santín, et al.
Plos One|March 28, 2017
Cystatin C estimated glomerular filtration rate to assess renal function in early stages of autosomal dominant polycystic kidney diseaseLaia Sans, Aleksandar Radosevic, Claudia Quintian, et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia|September 6, 2016
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapyMónica Furlano, Yaima Barreiro, Teresa Martí, et al.
Kidney International|January 13, 2012
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutationsJohanna Temme, Frederick Peters, Katharina Lange, et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia|February 1, 2013
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus documentJosep M Campistol, Manuel Arias, Gema Ariceta, et al.
Pageof 17