Search Results (33)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
|---|
| 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?
|