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Marco Cappa

Showing results (161-170 of 207) with videos related to

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BMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.
Journal of Clinical Medicine|June 10, 2022
In Search for the Missing Link in APECED-like Conditions: Analysis of the <i>AIRE</i> Gene in a Series of 48 PatientsAlessandra Fierabracci, Eugenia Belcastro, Elena Carbone, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Human Mutation|January 12, 2005
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophyGiorgia Montagna, Antonella Di Biase, Marco Cappa, et al.
American Journal of Human Genetics|January 27, 2015
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6Andrea Masotti, Paolo Uva, Laura Davis-Keppen, et al.
Endocrine Connections|January 14, 2022
Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experienceLaura Chioma, Carla Bizzarri, Martina Verzani, et al.
Journal of the Endocrine Society|March 2, 2019
Influence of Hashimoto Thyroiditis on the Development of Thyroid Nodules and Cancer in Children and AdolescentsGiorgio Radetti, Sandro Loche, Valeria D'Antonio, et al.
Epilepsia|February 27, 2026
Circulating microRNAs as biomarkers in pediatric epilepsy: A longitudinal cohort studyLicia Salimbene, Mattia Mercier, Valentina Spedaletti, et al.
Journal of Clinical Medicine|August 14, 2025
Height Velocity in Pediatric Cystic Fibrosis Under Triple CFTR Modulator Therapy: A Real-Life Monocentric ExperienceAlessandra Boni, Francesco d'Aniello, Grazia Ubertini, et al.
Diabetes|February 28, 2003
The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental ItalyMassimo Federici, Antonio Petrone, Ottavia Porzio, et al.
Pageof 21

Showing results (161-170 of 207) with videos related to

Sort By:
Pageof 21
BMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.
Journal of Clinical Medicine|June 10, 2022
In Search for the Missing Link in APECED-like Conditions: Analysis of the <i>AIRE</i> Gene in a Series of 48 PatientsAlessandra Fierabracci, Eugenia Belcastro, Elena Carbone, et al.
Gene|July 13, 2017
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndromeMaria Lisa Dentici, Sabina Barresi, Marta Nardella, et al.
Human Mutation|January 12, 2005
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophyGiorgia Montagna, Antonella Di Biase, Marco Cappa, et al.
American Journal of Human Genetics|January 27, 2015
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6Andrea Masotti, Paolo Uva, Laura Davis-Keppen, et al.
Endocrine Connections|January 14, 2022
Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experienceLaura Chioma, Carla Bizzarri, Martina Verzani, et al.
Journal of the Endocrine Society|March 2, 2019
Influence of Hashimoto Thyroiditis on the Development of Thyroid Nodules and Cancer in Children and AdolescentsGiorgio Radetti, Sandro Loche, Valeria D'Antonio, et al.
Epilepsia|February 27, 2026
Circulating microRNAs as biomarkers in pediatric epilepsy: A longitudinal cohort studyLicia Salimbene, Mattia Mercier, Valentina Spedaletti, et al.
Journal of Clinical Medicine|August 14, 2025
Height Velocity in Pediatric Cystic Fibrosis Under Triple CFTR Modulator Therapy: A Real-Life Monocentric ExperienceAlessandra Boni, Francesco d'Aniello, Grazia Ubertini, et al.
Diabetes|February 28, 2003
The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental ItalyMassimo Federici, Antonio Petrone, Ottavia Porzio, et al.
Pageof 21