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Maria Iascone

Showing results (51-60 of 178) with videos related to

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European Journal of Medical Genetics|April 9, 2019
Heart transplantation in Danon disease: Long term single centre experience and review of the literatureConcetta Di Nora, Daniela Miani, Angela Valentina D'Elia, et al.
Frontiers in Genetics|March 28, 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Plos One|December 22, 2016
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 MutationMaria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, et al.
BMC Neurology|March 25, 2022
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literatureAlessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, et al.
Circulation|December 6, 2012
Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutationMaria Iascone, Maria Elena Sana, Laura Pezzoli, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|August 5, 2018
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiencyFrancesco Saettini, Daniele Moratto, Andrea Grioni, et al.
Journal of Pediatric Gastroenterology and Nutrition|June 1, 2017
A Child With Ichthyosis and Liver FailureGiuseppe Indolfi, Maria Iascone, Giulia Remaschi, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Double somatic mosaicism in Cornelia de Lange syndromeLidia Pezzani, Laura Pezzoli, Erica Rosina, et al.
Prenatal Diagnosis|June 4, 2019
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature reviewChiara Dordoni, Federico Prefumo, Maria Iascone, et al.
Frontiers in Pediatrics|March 24, 2025
Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladderRiccardo Pagani, Laura Lorioli, Francesca Favini, et al.
Pageof 18

Showing results (51-60 of 178) with videos related to

Sort By:
Pageof 18
European Journal of Medical Genetics|April 9, 2019
Heart transplantation in Danon disease: Long term single centre experience and review of the literatureConcetta Di Nora, Daniela Miani, Angela Valentina D'Elia, et al.
Frontiers in Genetics|March 28, 2024
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
Plos One|December 22, 2016
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 MutationMaria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, et al.
BMC Neurology|March 25, 2022
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literatureAlessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, et al.
Circulation|December 6, 2012
Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutationMaria Iascone, Maria Elena Sana, Laura Pezzoli, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|August 5, 2018
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiencyFrancesco Saettini, Daniele Moratto, Andrea Grioni, et al.
Journal of Pediatric Gastroenterology and Nutrition|June 1, 2017
A Child With Ichthyosis and Liver FailureGiuseppe Indolfi, Maria Iascone, Giulia Remaschi, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Double somatic mosaicism in Cornelia de Lange syndromeLidia Pezzani, Laura Pezzoli, Erica Rosina, et al.
Prenatal Diagnosis|June 4, 2019
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature reviewChiara Dordoni, Federico Prefumo, Maria Iascone, et al.
Frontiers in Pediatrics|March 24, 2025
Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladderRiccardo Pagani, Laura Lorioli, Francesca Favini, et al.
Pageof 18