PMC Articles for MedGen (Select 893130) - PMC

Result Filters

Links from MedGen

Items: 2

Select item 104179471.

Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India

Parveen Sen, Natarajan Srikrupa, Puja Maitra, Sundaramurthy Srilekha, Periyasamy Porkodi, Harshavardhini Gnanasekaran, Muna Bhende, Vikas Khetan, Sinnakaruppan Mathavan, Pramod Bhende, Dhanashree Ratra, Rajiv Raman, Chetan Rao, Sarangapani Sripriya

Indian J Ophthalmol. 2023 Jun; 71(6): 2512–2520. Published online 2023 Jun 14. doi: 10.4103/IJO.IJO_2579_22

PMCID:: PMC10417947

Article PDF–4.2M

Select item 90555532.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 25. Published online 2022 Apr 28. doi: 10.1167/iovs.63.4.25