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Alba Pilotta

Showing results (11-20 of 30) with videos related to

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The New England Journal of Medicine|February 14, 2009
A family with complete resistance to thyrotropin-releasing hormoneMarco Bonomi, Marta Busnelli, Paolo Beck-Peccoz, et al.
Minerva Endocrinologica|June 16, 2016
Is retesting in growth hormone deficient children really useful?Cristina Meazza, Chiara Gertosio, Sara Pagani, et al.
Stem Cell Research|December 31, 2023
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutationGiulia Sbrini, Zaira Tomasoni, Maria Rosa Cutrì, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 18, 2012
Growth retardation and reduced growth hormone secretion in cystic fibrosis. Clinical observations from three CF centersD'Orazio Ciro, Rita Padoan, Hannah Blau, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|June 6, 2014
Profound T-cell defects in Dubowitz syndromeVassilios Lougaris, Manuela Baronio, Massimiliano Vitali, et al.
Molecular Genetics and Metabolism|May 14, 2025
Letter to the Editors: Concerning "SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient" by Johnsen et alAlessandra Verde, Maria Rosa Cutri', Federica Pagani, et al.
European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Genes|July 27, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed PatientsErica Rosina, Lidia Pezzani, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1RGianfranco Savoldi, Claudia Izzi, Marino Signorelli, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2013
Growth hormone therapy and respiratory disorders: long-term follow-up in PWS childrenJenny Berini, Valeria Spica Russotto, Paolo Castelnuovo, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
The New England Journal of Medicine|February 14, 2009
A family with complete resistance to thyrotropin-releasing hormoneMarco Bonomi, Marta Busnelli, Paolo Beck-Peccoz, et al.
Minerva Endocrinologica|June 16, 2016
Is retesting in growth hormone deficient children really useful?Cristina Meazza, Chiara Gertosio, Sara Pagani, et al.
Stem Cell Research|December 31, 2023
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutationGiulia Sbrini, Zaira Tomasoni, Maria Rosa Cutrì, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 18, 2012
Growth retardation and reduced growth hormone secretion in cystic fibrosis. Clinical observations from three CF centersD'Orazio Ciro, Rita Padoan, Hannah Blau, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|June 6, 2014
Profound T-cell defects in Dubowitz syndromeVassilios Lougaris, Manuela Baronio, Massimiliano Vitali, et al.
Molecular Genetics and Metabolism|May 14, 2025
Letter to the Editors: Concerning "SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient" by Johnsen et alAlessandra Verde, Maria Rosa Cutri', Federica Pagani, et al.
European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Genes|July 27, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed PatientsErica Rosina, Lidia Pezzani, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1RGianfranco Savoldi, Claudia Izzi, Marino Signorelli, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2013
Growth hormone therapy and respiratory disorders: long-term follow-up in PWS childrenJenny Berini, Valeria Spica Russotto, Paolo Castelnuovo, et al.
Pageof 3