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Srikrupa N Natarajan
Srikrupa N Natarajan
SNONGC department of genetics and molecular biology, Vision Research foundation, Sankara Nethralaya
在 snmail.org 的电子邮件经过验证
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引用次数
引用次数
年份
Homozygosity mapping in Leber congenital amaurosis and autosomal recessive retinitis pigmentosa in South Indian families
S Srilekha, T Arokiasamy, NN Srikrupa, V Umashankar, S Meenakshi, ...
PloS one 10 (7), e0131679, 2015
452015
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing
NN Srikrupa, S Srilekha, P Sen, T Arokiasamy, S Meenakshi, M Bhende, ...
Clinical genetics 93 (2), 329-339, 2018
182018
Leber’s Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report
NN Srikrupa, S Meenakshi, T Arokiasamy, K Murali, N Soumittra
Ophthalmic genetics 35 (2), 119-124, 2014
162014
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
AJP Sudha D, Neriyanuri S, Sachidanandam R, Natarajan SN, Gandra M ...
PLoS One 13 (5), e0198086, 2018
152018
CERKL mutation causing retinitis pigmentosa (RP) in Indian population–a genotype and phenotype correlation study
P Sen, P Maitra, S Natarajan, S Sripriya, S Mathavan, M Bhende, ...
Ophthalmic Genetics 41 (6), 570-578, 2020
122020
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
NN Srikrupa, S Sripriya, S Pavithra, P Sen, R Gupta, S Mathavan
Human Genome Variation 8 (1), 12, 2021
52021
Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort
P Bende, K Natarajan, T Marudhamuthu, J Madhavan
Journal of Pediatric Ophthalmology & Strabismus 50 (1), 34-36, 2013
52013
Next generation sequencing based genetic testing and phenotype correlation in retinitis pigmentosa patients from india
S Natarajan, S Parveen, M Puja, S Sundaramurthy, P Periyasamy, ...
Indian Journal of Ophthalmology 71 (6), 2512-2520, 2023
32023
RPE65 Mutations May be a Common Cause of Leber Congenital Amaurosis in India
M Gandra, SN Natarajan, V Khetan, JP Arunachalam, G Lingam, ...
Investigative Ophthalmology & Visual Science 51 (13), 2579-2579, 2010
22010
An Overview on the Genetic Etiology, Testing, and Therapeutic Options for Retinitis Pigmentosa.
SS Srikrupa N. Natarajan, Harshavardhini Gnanasekaran, Suganya Kandeeban ...
Genetics of Ocular Diseases 1, pp 143-163, 2022
12022
The genetics and epigenetics of myopia: An overview.
SS Srikrupa N. Natarajan, Syed Ali Fathima Afrin
Myopia: Prevalence, risk factors and management 1, 21-44, 2024
2024
Next Generation Sequencing in presumptive diagnosis of syndromes in childhood retinal dystrophies-case series from India
H Gnanasekaran, SN Natarajan, M Bhende, P Divya, P Sen, S Nagasamy, ...
Human Gene 39, 201262, 2024
2024
RNA biomarker discovery in Polypoidal Choroidal Vasculopathy (PCV): Pharmacogenomics approach
M Sinnakaruppan, LP Alagappan, K Suganya, TM Pradeep, NN Srikrupa, ...
Investigative Ophthalmology & Visual Science 60 (9), 3452-3452, 2019
2019
Leber Congenital Amaurosis Clinical Profiling and Genetic Analysis Using High Throughput Resequencing in an Indian Cohort
N Srikrupa
Pilani, 2018
2018
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