Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Author:
Funder
Ministerio de Ciencia e Innovación
Fondazione Marche
Beatrice and Samuel A. Seaver Foundation
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
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2. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males;Journal of Molecular Neuroscience;2024-01-29
3. Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series;American Journal of Medical Genetics Part A;2024-01-10
4. Helsmoortel-Van der Aa syndrome – psychophysical functioning of patient and therapeutic management (case report);2023-09-19
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