Associated Papers
MED13L-related disorder characterized by severe motor speech impairment.
Mitchel MW et al.
Journal of Neurodevelopmental Disorders, 2025
40993520 (PubMed )
Supplement: 11689_2025_9645_MOESM1_ESM.xlsx › Table_S2
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T et al.
Neurogenetics, 2018
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
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