Joe DiMaggio Children's Hospital

Hospital


Location: Hollywood, FL, United States (USA) (US) US

ISNI: 0000000404444338

ROR: https://ror.org/04ts0w644

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025) Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, et al. Journal article Myocardial Scarring and Sudden Cardiac Death in Young Patients with Hypertrophic Cardiomyopathy: A Multicenter Cohort Study (2024) Chan RH, Van Der Wal L, Liberato G, Rowin E, Soslow J, Maskatia S, Chan S, et al. Journal article Developmental epileptic encephalopathy in DLG4-related synaptopathy. (2024) Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, et al. Journal article Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al. Journal article Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (2019) Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, De Crescenzo A, Kotzaeridou U, et al. Conference contribution Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (2019) Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, et al. Journal article