Vikki Stefans

Combination molecular therapies for type 1 spinal muscular atrophy

Yohei Harada, Vamshi K. Rao, Kapil Arya et al. · Muscle & Nerve · 2020 · 78 citations

<i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Braden S. Jensen, Tobias Willer, Dimah Saade et al. · Human Mutation · 2015 · 45 citations · Full text

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Julia Wang, Emily Kim, Honzheng Dai et al. · Molecular Genetics and Metabolism · 2018 · 44 citations

Chromatin, Genome Instability, Genetic Disorder +9

De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autism

Akemi Tanaka, Megan T. Cho, Rebecca Willaert et al. · Molecular Case Studies · 2017 · 36 citations · Full text

Protocol for the Use of Videofluoroscopy in Pediatric Swallowing Dysfunction

Karen S. Zerilli, Vikki Stefans, Michael A. DiPietro · American Journal of Occupational Therapy · 1990 · 35 citations

Pediatric Feeding, Pediatric Otolaryngology, Pediatric Swallowing +11