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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Academic Article Why?
Considering Decision-Making and Sexuality in Menstrual Suppression of Teens and Young Adults with Intellectual Disabilities.Academic Article Why?
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.Academic Article Why?
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Academic Article Why?
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.Academic Article Why?
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Academic Article Why?
Use of audio cuing to expand employment opportunities for adolescents with autism spectrum disorders and intellectual disabilities.Academic Article Why?
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.Academic Article Why?
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.Academic Article Why?
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Academic Article Why?
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.Academic Article Why?
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.Academic Article Why?
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.Academic Article Why?
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.Academic Article Why?
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.Academic Article Why?
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