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Francesca M Elli

Showing results (1-10 of 19) with videos related to

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Annales D'Endocrinologie|April 26, 2015
Pseudohypoparathyroidism type Ib in 2015Giovanna Mantovani, Francesca M Elli
Frontiers of Hormone Research|January 15, 2019
Inactivating PTH/PTHrP Signaling DisordersGiovanna Mantovani, Francesca M Elli
Endocrine|January 16, 2020
A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literatureAlessandro Brancatella, Giovanna Mantovani, Francesca M Elli, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Clinical utility gene card for: pseudohypoparathyroidismGiovanna Mantovani, Agnes Linglart, Intza Garin, et al.
The Journal of Clinical Endocrinology and Metabolism|January 21, 2014
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMRFrancesca M Elli, Luisa de Sanctis, Erika Peverelli, et al.
The Journal of Clinical Endocrinology and Metabolism|March 29, 2021
Pseudohypoparathyroidism: Focus on Cerebral and Renal CalcificationsLaura Mazoni, Matteo Apicella, Federica Saponaro, et al.
International Journal of Molecular Sciences|February 23, 2019
FGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic TransformationDeborah Mattinzoli, Masami Ikehata, Koji Tsugawa, et al.
Gene|July 10, 2012
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotypeFrancesca M Elli, Stefano Ghirardello, Claudia Giavoli, et al.
The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterationsFrancesca M Elli, Luisa de Sanctis, Valentina Bollati, et al.
European Journal of Endocrinology|December 3, 2020
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patientsArrate Pereda, Francesca M Elli, Suzanne Thiele, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Annales D'Endocrinologie|April 26, 2015
Pseudohypoparathyroidism type Ib in 2015Giovanna Mantovani, Francesca M Elli
Frontiers of Hormone Research|January 15, 2019
Inactivating PTH/PTHrP Signaling DisordersGiovanna Mantovani, Francesca M Elli
Endocrine|January 16, 2020
A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literatureAlessandro Brancatella, Giovanna Mantovani, Francesca M Elli, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Clinical utility gene card for: pseudohypoparathyroidismGiovanna Mantovani, Agnes Linglart, Intza Garin, et al.
The Journal of Clinical Endocrinology and Metabolism|January 21, 2014
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMRFrancesca M Elli, Luisa de Sanctis, Erika Peverelli, et al.
The Journal of Clinical Endocrinology and Metabolism|March 29, 2021
Pseudohypoparathyroidism: Focus on Cerebral and Renal CalcificationsLaura Mazoni, Matteo Apicella, Federica Saponaro, et al.
International Journal of Molecular Sciences|February 23, 2019
FGF23 and Fetuin-A Interaction and Mesenchymal Osteogenic TransformationDeborah Mattinzoli, Masami Ikehata, Koji Tsugawa, et al.
Gene|July 10, 2012
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotypeFrancesca M Elli, Stefano Ghirardello, Claudia Giavoli, et al.
The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterationsFrancesca M Elli, Luisa de Sanctis, Valentina Bollati, et al.
European Journal of Endocrinology|December 3, 2020
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patientsArrate Pereda, Francesca M Elli, Suzanne Thiele, et al.
Pageof 2