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Alba Pilotta

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Journal of Pediatric Endocrinology & Metabolism : JPEM|September 22, 2011
Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndromeGraziano Grugni, Antonino Crinò, Sara Pagani, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 1, 2019
Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patientsLorenzo Iughetti, Giulia Vivi, Antonio Balsamo, et al.
Italian Journal of Pediatrics|June 15, 2019
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian studyElena Manara, Stefano Paolacci, Fabiana D'Esposito, et al.
Journal of Clinical Immunology|May 27, 2019
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center StudyVassilios Lougaris, Annamaria Sorlini, Chiara Monfredini, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
The Italian National Survey for Prader-Willi syndrome: an epidemiologic studyGraziano Grugni, Antonino Crinò, Laura Bosio, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
Science Advances|July 10, 2024
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter releaseSimon Früh, Sami Boudkkazi, Peter Koppensteiner, et al.
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Showing results (21-30 of 30) with videos related to

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You have reached the last page of results.This site can display upto 30 results.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 22, 2011
Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndromeGraziano Grugni, Antonino Crinò, Sara Pagani, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 1, 2019
Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patientsLorenzo Iughetti, Giulia Vivi, Antonio Balsamo, et al.
Italian Journal of Pediatrics|June 15, 2019
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian studyElena Manara, Stefano Paolacci, Fabiana D'Esposito, et al.
Journal of Clinical Immunology|May 27, 2019
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center StudyVassilios Lougaris, Annamaria Sorlini, Chiara Monfredini, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
Genes|November 24, 2022
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> VariantsMarco Ferilli, Andrea Ciolfi, Lucia Pedace, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
The Italian National Survey for Prader-Willi syndrome: an epidemiologic studyGraziano Grugni, Antonino Crinò, Laura Bosio, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
Science Advances|July 10, 2024
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter releaseSimon Früh, Sami Boudkkazi, Peter Koppensteiner, et al.
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