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Emanuela Scarano

Showing results (21-30 of 44) with videos related to

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Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.
Aging Cell|August 16, 2018
Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPSElisabetta Mattioli, Davide Andrenacci, Cecilia Garofalo, et al.
Journal of Medical Genetics|September 11, 2025
Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvementFulvio D'Abrusco, Simone Gana, Enrico Alfei, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Frontiers in Endocrinology|January 10, 2022
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult HeightAnnachiara Libraro, Vito D'Ascanio, Marco Cappa, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 18, 2019
A novel mutation in <i>SPART</i> gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolismChiara Diquigiovanni, Christian Bergamini, Rebeca Diaz, et al.
Endocrine Connections|April 4, 2023
Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiencyPatrizia Bruzzi, Silvia Vannelli, Emanuela Scarano, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
Frontiers in Pediatrics|January 28, 2026
Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric studySarah Dal Ben, Federica Tamburrino, Francesca Bonomo, et al.
Orphanet Journal of Rare Diseases|July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiencesAnna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Pageof 5

Showing results (21-30 of 44) with videos related to

Sort By:
Pageof 5
Journal of Medical Genetics|December 28, 2020
Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndromeSimona Amenta, Silvia Frangella, Giuseppe Marangi, et al.
Aging Cell|August 16, 2018
Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPSElisabetta Mattioli, Davide Andrenacci, Cecilia Garofalo, et al.
Journal of Medical Genetics|September 11, 2025
Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvementFulvio D'Abrusco, Simone Gana, Enrico Alfei, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Frontiers in Endocrinology|January 10, 2022
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult HeightAnnachiara Libraro, Vito D'Ascanio, Marco Cappa, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 18, 2019
A novel mutation in <i>SPART</i> gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolismChiara Diquigiovanni, Christian Bergamini, Rebeca Diaz, et al.
Endocrine Connections|April 4, 2023
Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiencyPatrizia Bruzzi, Silvia Vannelli, Emanuela Scarano, et al.
American Journal of Human Genetics|March 26, 2019
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial PhenotypingFelix Marbach, Cecilie F Rustad, Angelika Riess, et al.
Frontiers in Pediatrics|January 28, 2026
Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric studySarah Dal Ben, Federica Tamburrino, Francesca Bonomo, et al.
Orphanet Journal of Rare Diseases|July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiencesAnna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Pageof 5