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Maria Iascone

Showing results (151-160 of 178) with videos related to

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European Heart Journal Supplements : Journal of the European Society of Cardiology|May 19, 2025
ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'Cristina Chimenti, Attilio Iacovoni, Andrea Montalto, et al.
Giornale Italiano Di Cardiologia (2006)|April 28, 2025
[ANMCO Position paper: Hypertrophic cardiomyopathy: from diagnosis to treatment]Cristina Chimenti, Attilio Iacovoni, Andrea Montalto, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
American Journal of Human Genetics|April 5, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
Pageof 18

Showing results (151-160 of 178) with videos related to

Sort By:
Pageof 18
European Heart Journal Supplements : Journal of the European Society of Cardiology|May 19, 2025
ANMCO position paper 'Hypertrophic cardiomyopathy: from diagnosis to treatment'Cristina Chimenti, Attilio Iacovoni, Andrea Montalto, et al.
Giornale Italiano Di Cardiologia (2006)|April 28, 2025
[ANMCO Position paper: Hypertrophic cardiomyopathy: from diagnosis to treatment]Cristina Chimenti, Attilio Iacovoni, Andrea Montalto, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
Journal of Medical Genetics|May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrumJean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
American Journal of Human Genetics|April 5, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
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