Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

por Willis, Erin, Moore, Steven A., Cox, Mary O., Stefans, Vikki, Aravindhan, Akilandeswari, Gokden, Murat, Veerapandiyan, Aravindhan
Publicado 2022

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

por Saylam, Ezgi, Moore, Steven A., Aravindhan, Akilandeswari, Marton, Heather, Nagy, Peter L., Gokden, Murat, Cox, Mary O., Stefans, Vikki, Veerapandiyan, Aravindhan
Publicado 2019

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

por Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.
Publicado 2017