Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India
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
Published in Indian journal of ophthalmology (01.06.2023)
Published in Indian journal of ophthalmology (01.06.2023)
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Journal Article
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
Gnanasekaran, Harshavardhini, Chandrasekhar, Sathya Priya, Kandeeban, Suganya, Periyasamy, Porkodi, Bhende, Muna, Khetan, Vikas, Gupta, Neerja, Kabra, Madhulika, Namboothri, Sheela, Sen, Parveen, Sripriya, Sarangapani
Published in Clinical genetics (01.10.2023)
Published in Clinical genetics (01.10.2023)
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Journal Article
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India
Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani
Published in Molecular vision (2021)
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Published in Molecular vision (2021)
Journal Article