Associated Papers
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.
Woods E et al.
American Journal of Medical Genetics. Part A, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Trujillano L et al.
Clinical Genetics, 2025
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Arteche-López A et al.
Genes, 2021
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