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Chiara Leoni

Showing results (61-70 of 146) with videos related to

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Orphanet Journal of Rare Diseases|January 23, 2021
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment statusChiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, et al.
American Journal of Medical Genetics. Part A|October 13, 2021
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature reviewChiara Leoni, Rita Blandino, Angelica Bibiana Delogu, et al.
Genes|July 2, 2021
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype CorrelationRoberta Onesimo, Daniela Ricci, Cristiana Agazzi, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndromeWhitney Eng, Ionela Iacobas, Jonathan Perkins, et al.
American Journal of Medical Genetics. Part A|May 7, 2019
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinomaChiara Leoni, Giuseppe Gullo, Nicoletta Resta, et al.
American Journal of Medical Genetics. Part A|April 3, 2021
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literatureRoberta Onesimo, Paolo Versacci, Angelica Bibiana Delogu, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 18, 2017
Psychopathological features in Noonan syndromeFrancesca Perrino, Serena Licchelli, Giulia Serra, et al.
American Journal of Medical Genetics. Part A|January 13, 2009
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascadeLaura Cesarini, Paolo Alfieri, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up studyChiara Leoni, Cristian Bisanti, Germana Viscogliosi, et al.
Italian Journal of Pediatrics|July 31, 2013
Probiotics and food allergyAnna Maria Castellazzi, Chiara Valsecchi, Silvia Caimmi, et al.
Pageof 15

Showing results (61-70 of 146) with videos related to

Sort By:
Pageof 15
Orphanet Journal of Rare Diseases|January 23, 2021
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment statusChiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, et al.
American Journal of Medical Genetics. Part A|October 13, 2021
Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature reviewChiara Leoni, Rita Blandino, Angelica Bibiana Delogu, et al.
Genes|July 2, 2021
Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype CorrelationRoberta Onesimo, Daniela Ricci, Cristiana Agazzi, et al.
Orphanet Journal of Rare Diseases|July 27, 2025
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndromeWhitney Eng, Ionela Iacobas, Jonathan Perkins, et al.
American Journal of Medical Genetics. Part A|May 7, 2019
First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinomaChiara Leoni, Giuseppe Gullo, Nicoletta Resta, et al.
American Journal of Medical Genetics. Part A|April 3, 2021
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literatureRoberta Onesimo, Paolo Versacci, Angelica Bibiana Delogu, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 18, 2017
Psychopathological features in Noonan syndromeFrancesca Perrino, Serena Licchelli, Giulia Serra, et al.
American Journal of Medical Genetics. Part A|January 13, 2009
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascadeLaura Cesarini, Paolo Alfieri, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|December 16, 2021
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up studyChiara Leoni, Cristian Bisanti, Germana Viscogliosi, et al.
Italian Journal of Pediatrics|July 31, 2013
Probiotics and food allergyAnna Maria Castellazzi, Chiara Valsecchi, Silvia Caimmi, et al.
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