Rezultati iskanja Brimble, Elise

31.	Investigating the Function of GTF2I and its Contribution to the Williams-Beuren Syndrome Neurological Profile Brimble, Elise Nicole Fabris 01/2014 Dissertation Williams-Beuren Syndrome (WBS) is a genetic neurodevelopmental disorder caused by the deletion of 25 protein-coding genes at chromosome 7q11.23. It is associated with a highly penetrant constellation ...	Celotno besedilo
32.	Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility Journal Article Odprti dostop	Celotno besedilo
33.	The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome Research Square (Research Square) Journal Article Odprti dostop	Celotno besedilo
34.	Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness medRxiv (Cold Spring Harbor Laboratory) Paper Odprti dostop	Celotno besedilo

31.

Investigating the Function of GTF2I and its Contribution to the Williams-Beuren Syndrome Neurological Profile
Brimble, Elise Nicole Fabris 01/2014
Dissertation

Williams-Beuren Syndrome (WBS) is a genetic neurodevelopmental disorder caused by the deletion of 25 protein-coding genes at chromosome 7q11.23. It is associated with a highly penetrant constellation ...