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A novel nonsense variant in <italic>REEP6</italic> is involved in a sporadic rod‐cone dystrophy case.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 707, doi. 10.1111/cge.13171
By:
- Méjécase, C.;
- Mohand‐saïd, S.;
- El Shamieh, S.;
- Antonio, A.;
- Condroyer, C.;
- Blanchard, S.;
- Letexier, M.;
- Saraiva, J.‐p.;
- Sahel, J.‐a.;
- Audo, I.;
- Zeitz, C.
Publication type:
Article
ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.
Published in:
Clinical Genetics, 2017, v. 92, n. 1, p. 109, doi. 10.1111/cge.12909
By:
- Audo, I.;
- El Shamieh, S.;
- Méjécase, C.;
- Michiels, C.;
- Demontant, V.;
- Antonio, A.;
- Condroyer, C.;
- Boyard, F.;
- Letexier, M.;
- Saraiva, J.‐P.;
- Blanchard, S.;
- Mohand‐Saïd, S.;
- Sahel, J.‐A.;
- Zeitz, C.
Publication type:
Article
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.
Published in:
Clinical Genetics, 2016, v. 89, n. 6, p. 690, doi. 10.1111/cge.12746
By:
- Neuillé, M.;
- Malaichamy, S.;
- Vadalà, M.;
- Michiels, C.;
- Condroyer, C.;
- Sachidanandam, R.;
- Srilekha, S.;
- Arokiasamy, T.;
- Letexier, M.;
- Démontant, V.;
- Sahel, J.‐A.;
- Sen, P.;
- Audo, I.;
- Soumittra, N.;
- Zeitz, C.
Publication type:
Article