Results 141 to 150 of about 37,333 (227)

Cone Dystrophy with Supernormal Rod Response Is Strictly Associated with Mutations inKCNV2 [PDF]

, 2008
Bernd Wissinger, Susann Dangel, Herbert Ja ̈gle, Lars Hestbjerg Hansen, Britta Baumann, Gu ̈nther Rudolph, Christiane Wolf, Michael Bonin, Katja Koeppen, Thomas Ladewig, Susanne Kohl, Eberhart Zrenner, Thomas Rosenberg   +12 more
openalex   +1 more source

Mizuo‐Nakamura phenomenon in cone‐rod dystrophy [PDF]

Clinical and Experimental Optometry, 2017
Vinod, Kumar, Neha, Goel, Ullattil K, Bhaskaran, Itika, Garg   +3 more
openaire   +2 more sources

<i>POC1B</i>-associated cone-rod dystrophy with bilateral optic disc swelling: A novel clinical observation. [PDF]

Am J Ophthalmol Case Rep
Bamardouf N, Alsaidi A, Almhmoudi F, Badeeb N, Danish E.   +4 more
europepmc   +1 more source

SHWACHMAN–DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY

Jingwen Zhang, Thales A. C. de Guimarães, Dorothy Thompson, Michel Michaelides   +3 more
openalex   +2 more sources

Cone-Rod Dystrophy 2 [PDF]

, 2020
openaire   +1 more source

<i>Atp1b2^Atp1b1</i> Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype. [PDF]

Cells
Bartsch S, Atiskova Y, Schlichting S, Becker E, Herrmann M, Bartsch U.   +5 more
europepmc   +1 more source

Autosomal dominant cone-rod dystrophy with negative electroretinogram. [PDF]

, 1995
N. FUJII, Takeshi Shiono, Yuko Wada, Mitsuru Nakazawa, Makoto Tamai, Nariaki Yamada   +5 more
openalex   +1 more source

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss. [PDF]

Mol Genet Genomic Med
Scarpato M, Testa F, Nesti A, Zeuli R, Boccia R, Auletta G, Banfi S, Simonelli F, Karali M.   +8 more
europepmc   +1 more source

Preclinical safety and biodistribution of SPVN06, a novel gene- and mutation-independent gene therapy for rod-cone dystrophies [PDF]

Mélanie Marie, Lucie Churet, Anne-Sophie Gautron, Rafal Farjo, Kensuke Mizuyoshi, Victoria A. Stevenson, Hanen Khabou, Thierry Léveillard, José‐Alain Sahel, Florence Lorget   +9 more
openalex   +1 more source

<i>De novo</i> variant in <i>GUCY2D</i> gene causing atypical cone-rod dystrophy in a consanguineous family and literature review. [PDF]

Int J Ophthalmol
Fang XH, Ke FY, Zou WQ, Zhu DJ, Ma MJ, Lian YY, Wu XL, Wei RH, Sheng XL.   +8 more
europepmc   +1 more source