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UnknownVariants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Not available
S-EPMC6288278 | biostudies-literature
UnknownA novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Not available
S-EPMC3261728 | biostudies-literature
UnknownPTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Not available
S-EPMC12618068 | biostudies-literature
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349 | biostudies-literature
UnknownMirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Not available
S-EPMC3637175 | biostudies-literature
UnknownThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Not available
S-EPMC5307971 | biostudies-literature
UnknownDefining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Not available
S-EPMC5894477 | biostudies-literature
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