Recommended protocol for performing oral fundus fluorescein angiography (FFA) in children

por Marmoy, Oliver R., Henderson, Robert H., Ooi, Kuan
Publicado 2020

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy

por Thompson, Dorothy A., Handley, Siân E., Henderson, Robert H., Marmoy, Oliver R., Gissen, Paul
Publicado 2021

Correction: An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy

por Thompson, Dorothy A., Handley, Siân E., Henderson, Robert H., Marmoy, Oliver R., Gissen, Paul
Publicado 2021

SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype

por Kamarus Jaman, Nazreen, Rehsi, Preeya, Henderson, Robert H., Löbel, Ulrike, Mankad, Kshitij, Grunewald, Stephanie
Publicado 2021

Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care

por Sowden, Jane C, Kros, Corné J, Sirimanna, Tony, Pagarkar, Waheeda, Oluonye, Ngozi, Henderson, Robert H
Publicado 2020

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

por Henderson, Robert H., Li, Zheng, El Aziz, Mai M. Abd, Mackay, Donna S., Eljinini, Mohammad A., Zeidan, Marwan, Moore, Anthony T., Bhattacharya, Shomi S., Webster, Andrew R.
Publicado 2010

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

por Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.
Publicado 2009

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

por Mackay, Donna S., Henderson, Robert H., Sergouniotis, Panagiotis I., Li, Zheng, Moradi, Phillip, Holder, Graham E., Waseem, Naushin, Bhattacharya, Shomi S., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Meyer, Brian, Webster, Andrew R., Moore, Anthony T.
Publicado 2010

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

New variants and in silico analyses in GRK1 associated Oguchi disease

por Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart P., Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., Rivolta, Carlo, Zeitz, Christina, Mahroo, Omar A., Arno, Gavin, Black, Graeme C. M., McKibbin, Martin, Harris, Sarah A., Khan, Kamron N., Inglehearn, Chris F.
Publicado 2020