1. Auditory phenotype of Smith–Lemli–Opitz syndrome. Issue 4 (2nd February 2021) Authors: Zalewski, Christopher K.; Sydlowski, Sarah A.; King, Kelly A.; Bianconi, Simona; Dang Do, An; Porter, Forbes D.; Brewer, Carmen C. Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Oxidative phosphorylation in creatine transporter deficiency. (29th September 2020) Authors: Li, Shizhe; Bianconi, Simona; van der Veen, Jan Willem; Dang Do, An; Stolinski, JoEllyn; Cecil, Kim M.; Hannah‐Shmouni, Fady; Porter, Forbes D.; Shen, Jun Journal: NMR in biomedicine Issue: Volume 34:Number 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗