Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India von Sen, Parveen, Srikrupa, Natarajan, Maitra, Puja, Srilekha, Sundaramurthy, Porkodi, Periyasamy, Gnanasekaran, Harshavardhini, Bhende, Muna, Khetan, Vikas, Mathavan, Sinnakaruppan, Bhende, Pramod, Ratra, Dhanashree, Raman, Rajiv, Rao, Chetan, Sripriya, Sarangapani

Volltext

Genetic testing in four Indian families with suspected Stickler syndrome von Kandeeban, Suganya, Kandale, Kaustubh, Periyasamy, Porkodi, Bhende, Muna, Bhende, Pramod, Sinnakaruppan, Mathavan, Sarangapani, Sripriya

Volltext

Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern von Gnanasekaran, Harshavardhini, Chandrasekhar, Sathya Priya, Kandeeban, Suganya, Periyasamy, Porkodi, Bhende, Muna, Khetan, Vikas, Gupta, Neerja, Kabra, Madhulika, Namboothri, Sheela, Sen, Parveen, Sripriya, Sarangapani

Volltext

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India von Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani

Volltext