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Irene Bruno

Showing results (21-30 of 61) with videos related to

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Diagnostics (Basel, Switzerland)|November 13, 2025
Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1-A Tertiary Center Experience in a Cohort of 118 ChildrenRužica Kravljanac, Jovana Beđik, Irene Bruno, et al.
American Journal of Medical Genetics. Part A|July 12, 2021
Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young childrenLorenzo Calligaris, Luisa Cortellazzo Wiel, Emma Sartor, et al.
Ophthalmic Genetics|August 1, 2012
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian familyFlavio Faletra, Adamo Pio d'Adamo, Stefano Pensiero, et al.
American Journal of Medical Genetics. Part A|November 26, 2013
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 geneFlavio Faletra, Adamo P D'Adamo, Irene Bruno, et al.
Journal of Endocrinological Investigation|March 2, 2026
Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinionIrene Bruno, Luisa De Sanctis, Nadia Edvige Foligno, et al.
The Journal of Pediatrics|June 9, 2020
A Child With Self-Improving Hypotonia: Look at the Skin!Ester Conversano, Anna Agrusti, Rosaura Conti, et al.
Skin Pharmacology and Physiology|April 5, 2017
Histoproteomic Characterization of Localized Cutaneous Amyloidosis in X-Linked Reticulate Pigmentary DisorderVincenzo L'Imperio, Irene Bruno, Ingrid Rabach, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|January 17, 2014
Possible direct influence of complement 3 in decreasing insulin sensitvity in a cohort of overweight and obese subjectsGiovanni De Pergola, Massimo Tartagni, Nicola Bartolomeo, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|January 7, 2017
Independent Relationship of Osteocalcin Circulating Levels with Obesity, Type 2 Diabetes, Hypertension, and HDL CholesterolGiovanni De Pergola, Vincenzo Triggiani, Nicola Bartolomeo, et al.
American Journal of Medical Genetics. Part A|December 1, 2020
Could the MED13 mutations manifest as a Kabuki-like syndrome?Laura De Nardi, Flavio Faletra, Adamo Pio D'Adamo, et al.
Pageof 7

Showing results (21-30 of 61) with videos related to

Sort By:
Pageof 7
Diagnostics (Basel, Switzerland)|November 13, 2025
Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1-A Tertiary Center Experience in a Cohort of 118 ChildrenRužica Kravljanac, Jovana Beđik, Irene Bruno, et al.
American Journal of Medical Genetics. Part A|July 12, 2021
Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young childrenLorenzo Calligaris, Luisa Cortellazzo Wiel, Emma Sartor, et al.
Ophthalmic Genetics|August 1, 2012
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian familyFlavio Faletra, Adamo Pio d'Adamo, Stefano Pensiero, et al.
American Journal of Medical Genetics. Part A|November 26, 2013
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 geneFlavio Faletra, Adamo P D'Adamo, Irene Bruno, et al.
Journal of Endocrinological Investigation|March 2, 2026
Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinionIrene Bruno, Luisa De Sanctis, Nadia Edvige Foligno, et al.
The Journal of Pediatrics|June 9, 2020
A Child With Self-Improving Hypotonia: Look at the Skin!Ester Conversano, Anna Agrusti, Rosaura Conti, et al.
Skin Pharmacology and Physiology|April 5, 2017
Histoproteomic Characterization of Localized Cutaneous Amyloidosis in X-Linked Reticulate Pigmentary DisorderVincenzo L'Imperio, Irene Bruno, Ingrid Rabach, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|January 17, 2014
Possible direct influence of complement 3 in decreasing insulin sensitvity in a cohort of overweight and obese subjectsGiovanni De Pergola, Massimo Tartagni, Nicola Bartolomeo, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|January 7, 2017
Independent Relationship of Osteocalcin Circulating Levels with Obesity, Type 2 Diabetes, Hypertension, and HDL CholesterolGiovanni De Pergola, Vincenzo Triggiani, Nicola Bartolomeo, et al.
American Journal of Medical Genetics. Part A|December 1, 2020
Could the MED13 mutations manifest as a Kabuki-like syndrome?Laura De Nardi, Flavio Faletra, Adamo Pio D'Adamo, et al.
Pageof 7