subject area of
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Heterozygous
NOTCH1 deletion associated with variable congenital heart defects Journal Articles - Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Journal Articles
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Journal Articles
- Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Journal Articles
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Journal Articles
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Journal Articles