2 research outputs found
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family
- Author
- Andreasson S
- Balciuniene J
- Berson EL
- Dizhoor AM
- Freund CL
- Goodman G
- Gouras P
- Gregory CY
- Gösta Holmgren
- Hans L. Eriksen
- Jacobson DM
- Kelsell RE
- Kelsell RE
- Kohl S
- Krill AE
- Kristina Forsman-Semb
- Kylstra JA
- Lisbeth Tranebjærg
- Marijke Van Ghelue
- McLeod DR
- Moore AT
- Nakazawa M
- Nakazawa M
- Ola Sandgren
- Perrault I
- Small KW
- Small KW
- Sten Andréasson
- Toril Fagerheim
- Van Everdingen JAM
- Vesna Ponjavic
- Warburg M
- Weleber RG
- Went LN
- Yagasaki K
- Publication venue
- 'Swets & Zeitlinger Publishers'
- Publication date
- Field of study
The cone dystrophies
- Author
- A Pinckers
- A Pinckers
- A Reitner
- A T Moore
- AA Bergen
- AE Krill
- AE Kwitek-Black
- AJLG Pinckers
- AM Payne
- AS Ladekjaer-Mikkelsen
- AT Moore
- B Sadowski
- C Verdoorn
- CJ Weitz
- CJ Weitz
- CL Freund
- CY Gregory
- D van Norren
- DG Birch
- DM Jacobson
- E Auerbach
- E Fincham
- E Hansen
- E Hansen
- E Kikawa
- E Reichel
- EL Berson
- F Meire
- FHG Pitt
- G Haegerstrom-Portnoy
- G Verriest
- GA Fishman
- H Ikeda
- H Larsen
- H Ripps
- HF Falls
- HK Hong
- HR Blackwell
- HR Krauss
- I Gottlob
- I Perrault
- IK Jalili
- IK Jalili
- IM Gibson
- IM Russell-Eggitt
- J Balciuniene
- J Francois
- J Nathans
- J Nathans
- J Nathans
- J Nathans
- J Pokorny
- J Szlyk
- JA Fleischman
- JA Klystra
- JAM van Everdingen
- JL Michaud
- JR Heckenlively
- JT Pearlman
- K Evans
- K Evans
- K Yagasaki
- KR Alexander
- KW Small
- L Pentao
- L Tranebjaberg
- LL Sloan
- LL Sloan
- LN Went
- M Alpern
- M Alpern
- M Alpern
- M Glickstein
- M Leppert
- M Nakazawa
- M Nakazawa
- M P Simunovic
- M Warburg
- MA Kazmi
- MJ van Schooneveld
- N Fujii
- NC Arbour
- P Gouras
- P Theiss
- R Carmi
- R Harrison
- RA Crone
- RA Pagon
- RA Weale
- RA Weale
- RE Kellsell
- RF Hess
- RL Terry
- S Andreasson
- S Hecht
- S Hecht
- S Nordstrom
- SG Jacobson
- T Neuhann
- T Reyniers
- U Bjork
- U Kellner
- U Kellner
- Vaegan
- VC Sheffield
- VC Smith
- VC Smith
- VC Smith
- W Polland
- Y Miyake
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study