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

Claudia Izzi

Showing results (51-60 of 80) with videos related to

Pageof 8
Sort By:
Scientific Reports|August 9, 2016
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)Paola Carrera, Silvia Calzavara, Riccardo Magistroni, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
American Journal of Human Genetics|February 3, 2007
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33Simone Sanna-Cherchi, Gianluca Caridi, Patricia L Weng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 9, 2019
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNAFrancesca Romana Grati, Jose Ferreira, Peter Benn, et al.
Journal of the American Society of Nephrology : JASN|May 16, 2009
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13Patricia L Weng, Simone Sanna-Cherchi, Terry Hensle, et al.
BMC Nephrology|December 19, 2024
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational studyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to <i>MUC1</i> Mutations: An Observational StudyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.
Pediatric Nephrology (Berlin, Germany)|January 14, 2026
APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tractLisanne M Vendrig, Juntao Ke, Michael W T Tanck, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Pageof 8

Showing results (51-60 of 80) with videos related to

Sort By:
Pageof 8
Scientific Reports|August 9, 2016
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)Paola Carrera, Silvia Calzavara, Riccardo Magistroni, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
American Journal of Human Genetics|February 3, 2007
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33Simone Sanna-Cherchi, Gianluca Caridi, Patricia L Weng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 9, 2019
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNAFrancesca Romana Grati, Jose Ferreira, Peter Benn, et al.
Journal of the American Society of Nephrology : JASN|May 16, 2009
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13Patricia L Weng, Simone Sanna-Cherchi, Terry Hensle, et al.
BMC Nephrology|December 19, 2024
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational studyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.
Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to <i>MUC1</i> Mutations: An Observational StudyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.
Pediatric Nephrology (Berlin, Germany)|January 14, 2026
APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tractLisanne M Vendrig, Juntao Ke, Michael W T Tanck, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Pageof 8