Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT ‐related mitochondrial disease

por Howard, Caoimhe, Dev‐Borman, Arundhati, Stokes, John, O'Rourke, Declan, Gillespie, Ciara, Twomey, Eilish, Knerr, Ina, Boruah, Ritma
Publicado 2022

RDH12 retinopathy: novel mutations and phenotypic description

por Mackay, Donna S., Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H., Li, Zheng, Wright, Genevieve A., Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A., Bhattacharya, Shomi S., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.
Publicado 2011

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

por Tan, Mei Hong, Mackay, Donna S., Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J., Wright, Genevieve A., Dev-Borman, Arundhati, Henderson, Robert H., Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E., Robson, Anthony G., Cheetham, Michael E., Thompson, Dorothy A., Webster, Andrew R., Michaelides, Michel, Ali, Robin R., Moore, Anthony T.
Publicado 2012