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Roberta Onesimo

Showing results (51-60 of 111) with videos related to

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American Journal of Medical Genetics. Part A|May 22, 2020
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?Barbara Parma, Paola Cianci, Milena Mariani, et al.
European Journal of Medical Genetics|February 1, 2022
Metabolic profiling of Costello syndrome: Insights from a single-center cohortChiara Leoni, Miriam Massese, Jacopo Gervasoni, 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.
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.
Genes|September 28, 2024
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating SyndromeRoberta Onesimo, Elisabetta Sforza, Federica Palermo, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.
American Journal of Medical Genetics. Part A|March 21, 2025
Costello Syndrome and Ophthalmologic Issues: Unveiling the UnseenSofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, et al.
Genes|January 21, 2023
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature ReviewFlaminia Pugnaloni, Roberta Onesimo, Rita Blandino, et al.
Genes|August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
Pageof 12

Showing results (51-60 of 111) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|May 22, 2020
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?Barbara Parma, Paola Cianci, Milena Mariani, et al.
European Journal of Medical Genetics|February 1, 2022
Metabolic profiling of Costello syndrome: Insights from a single-center cohortChiara Leoni, Miriam Massese, Jacopo Gervasoni, 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.
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.
Genes|September 28, 2024
Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating SyndromeRoberta Onesimo, Elisabetta Sforza, Federica Palermo, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.
American Journal of Medical Genetics. Part A|March 21, 2025
Costello Syndrome and Ophthalmologic Issues: Unveiling the UnseenSofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, et al.
Genes|January 21, 2023
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature ReviewFlaminia Pugnaloni, Roberta Onesimo, Rita Blandino, et al.
Genes|August 28, 2025
Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1Federico Calà, Elisabetta Sforza, Lucia D'Alatri, et al.
Pageof 12