Angela Peron
0000-0002-1769-6548
University of Utah
5 papers found
Refreshing results…
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
PIGW -related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
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