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

Francesco Emma

Showing results (181-190 of 225) with videos related to

Pageof 23
Sort By:
Orphanet Journal of Rare Diseases|September 26, 2023
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical dataGema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, et al.
Journal of the American Society of Nephrology : JASN|June 16, 2018
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic SyndromeHanna Debiec, Claire Dossier, Eric Letouzé, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 25, 2016
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best PracticeRon T Gansevoort, Mustafa Arici, Thomas Benzing, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
Cells|December 24, 2021
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic CystinosisAnna Taranta, Mohamed A Elmonem, Francesco Bellomo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, et al.
Pediatric Nephrology (Berlin, Germany)|April 11, 2015
An international consensus approach to the management of atypical hemolytic uremic syndrome in childrenChantal Loirat, Fadi Fakhouri, Gema Ariceta, 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.
Nature Reviews. Nephrology|January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International|July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosisFrancesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Pageof 23

Showing results (181-190 of 225) with videos related to

Sort By:
Pageof 23
Orphanet Journal of Rare Diseases|September 26, 2023
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical dataGema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, et al.
Journal of the American Society of Nephrology : JASN|June 16, 2018
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic SyndromeHanna Debiec, Claire Dossier, Eric Letouzé, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 25, 2016
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best PracticeRon T Gansevoort, Mustafa Arici, Thomas Benzing, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
Cells|December 24, 2021
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic CystinosisAnna Taranta, Mohamed A Elmonem, Francesco Bellomo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, et al.
Pediatric Nephrology (Berlin, Germany)|April 11, 2015
An international consensus approach to the management of atypical hemolytic uremic syndrome in childrenChantal Loirat, Fadi Fakhouri, Gema Ariceta, 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.
Nature Reviews. Nephrology|January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International|July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosisFrancesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Pageof 23