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Claudia Izzi

Showing results (21-30 of 80) with videos related to

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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 29, 2003
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsyClaudia Izzi, Alessandro Barbon, Mohammad Reza Toliat, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 23, 2018
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literatureAnnalisa Agostini, Daniela Marchetti, Claudia Izzi, et al.
La Radiologia Medica|July 5, 2017
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosisMaria Pia Bondioni, Ugo Ernesto Pazzaglia, Claudia Izzi, et al.
Biomedicines|October 26, 2024
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype FeaturesMara Giacché, Maria Chiara Tacchetti, Claudia Agabiti-Rosei, et al.
Journal of Nephrology|August 6, 2021
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestryElisa Delbarba, Laura Econimo, Chiara Dordoni, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|November 24, 2004
Uromodulin storage diseases: clinical aspects and mechanismsFrancesco Scolari, Gianluca Caridi, Luca Rampoldi, et al.
Blood Transfusion = Trasfusione Del Sangue|November 13, 2018
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlationsElena Chinni, Giovanni Tiscia, Giovanni Favuzzi, et al.
Kidney International Reports|May 2, 2022
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing GenotypeClaudia Izzi, Chiara Dordoni, Elisa Delbarba, et al.
Clinical Kidney Journal|February 26, 2024
Monoallelic pathogenic <i>IFT140</i> variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotypeChiara Dordoni, Letizia Zeni, Diego Toso, et al.
Pediatric Nephrology (Berlin, Germany)|March 8, 2011
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Vera Uliana, Elena Marcocci, Mafalda Mucciolo, et al.
Pageof 8

Showing results (21-30 of 80) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 29, 2003
Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsyClaudia Izzi, Alessandro Barbon, Mohammad Reza Toliat, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 23, 2018
Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literatureAnnalisa Agostini, Daniela Marchetti, Claudia Izzi, et al.
La Radiologia Medica|July 5, 2017
Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosisMaria Pia Bondioni, Ugo Ernesto Pazzaglia, Claudia Izzi, et al.
Biomedicines|October 26, 2024
Pheochromocytoma-Paraganglioma Syndrome: A Multiform Disease with Different Genotype and Phenotype FeaturesMara Giacché, Maria Chiara Tacchetti, Claudia Agabiti-Rosei, et al.
Journal of Nephrology|August 6, 2021
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestryElisa Delbarba, Laura Econimo, Chiara Dordoni, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|November 24, 2004
Uromodulin storage diseases: clinical aspects and mechanismsFrancesco Scolari, Gianluca Caridi, Luca Rampoldi, et al.
Blood Transfusion = Trasfusione Del Sangue|November 13, 2018
Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlationsElena Chinni, Giovanni Tiscia, Giovanni Favuzzi, et al.
Kidney International Reports|May 2, 2022
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing GenotypeClaudia Izzi, Chiara Dordoni, Elisa Delbarba, et al.
Clinical Kidney Journal|February 26, 2024
Monoallelic pathogenic <i>IFT140</i> variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotypeChiara Dordoni, Letizia Zeni, Diego Toso, et al.
Pediatric Nephrology (Berlin, Germany)|March 8, 2011
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Vera Uliana, Elena Marcocci, Mafalda Mucciolo, et al.
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