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Journal of the American College of Cardiology|November 17, 2018
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic CardiomyopathyJuan Pablo Ochoa, María Sabater-Molina, José Manuel García-Pinilla, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
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