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Showing 1–4 of 4 results
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Research |
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
- Robert K Koenekoop
- , Hui Wang
- , Jacek Majewski
- , Xia Wang
- , Irma Lopez
- , Huanan Ren
- , Yiyun Chen
- , Yumei Li
- , Gerald A Fishman
- , Mohammed Genead
- , Jeremy Schwartzentruber
- , Naimesh Solanki
- , Elias I Traboulsi
- , Jingliang Cheng
- , Clare V Logan
- , Martin McKibbin
- , Bruce E Hayward
- , David A Parry
- , Colin A Johnson
- , Mohammed Nageeb
- , James A Poulter
- , Moin D Mohamed
- , Hussain Jafri
- , Yasmin Rashid
- , Graham R Taylor
- , Vafa Keser
- , Graeme Mardon
- , Huidan Xu
- , Chris F Inglehearn
- , Qing Fu
- , Carmel Toomes
- & Rui Chen
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Research |
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
- Eranga N Vithana
- , Patricio Morgan
- , Periasamy Sundaresan
- , Neil D Ebenezer
- , Donald T H Tan
- , Moin D Mohamed
- , Seema Anand
- , Khin O Khine
- , Divya Venkataraman
- , Victor H K Yong
- , Manuel Salto-Tellez
- , Anandalakshmi Venkatraman
- , Ke Guo
- , Boomiraj Hemadevi
- , Muthiah Srinivasan
- , Venkatesh Prajna
- , Myint Khine
- , Joseph R Casey
- , Chris F Inglehearn
- & Tin Aung
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Research |
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
- Anneke I den Hollander
- , Robert K Koenekoop
- , Moin D Mohamed
- , Heleen H Arts
- , Karsten Boldt
- , Katherine V Towns
- , Tina Sedmak
- , Monika Beer
- , Kerstin Nagel-Wolfrum
- , Martin McKibbin
- , Sharola Dharmaraj
- , Irma Lopez
- , Lenka Ivings
- , Grange A Williams
- , Kelly Springell
- , C Geoff Woods
- , Hussain Jafri
- , Yasmin Rashid
- , Tim M Strom
- , Bert van der Zwaag
- , Ilse Gosens
- , Ferry F J Kersten
- , Erwin van Wijk
- , Joris A Veltman
- , Marijke N Zonneveld
- , Sylvia E C van Beersum
- , Irene H Maumenee
- , Uwe Wolfrum
- , Michael E Cheetham
- , Marius Ueffing
- , Frans P M Cremers
- , Chris F Inglehearn
- & Ronald Roepman
