E-LIB Suche - Ergebnisse für: Sundaresan, Periasamy

1

Genotypic and phenotypic diversity in X-linked retinoschisi..:

Chowdhury, Susmita ; Chermakani, Prakash ; Baliga, Girish..
Indian Journal of Ophthalmology. 72 (2024) 6 - p. 902-911 , 2024

Link: https://doi.org/10.4103/..

2

Association of ABCA4 Gene Variants in Patients with Autosom..:

Kadarkarai Raj Rajendran ; Chermakani, Prakash ; Anjanamurthy, Rupa..
Cytology and Genetics. 57 (2023) 3 - p. 258-267 , 2023

Link: https://doi.org/10.3103/..

3

Mutation profile of neurodegenerative mitochondriopathy – L..:

Gowri, Poigaialwar ; Sathish, Ponraj ; Mahesh Kumar, Shanmugam.
Gene. 819 (2022) - p. 146202 , 2022

Link: https://doi.org/10.1016/..

4

Variants in the Wnt co-receptor LRP6 are associated with fa..:

Li, Shujin ; Yang, Mu ; He, Yunqi...
Journal of Genetics and Genomics. 49 (2022) 6 - p. 590-594 , 2022

Link: https://doi.org/10.1016/..

5

Genetics of Congenital Glaucoma:

, In: Genetics of Ocular Diseases,

Duvesh, Roopam ; Krishnadas, Subbiah Ramasamy ; Sundaresan, Periasamy - p. 41-70 , 2022

Link: https://doi.org/10.1007/..

6

Clinical exome sequencing facilitates the understanding of ..:

Viswarubhiny, Sriee ; Anjanamurthy, Rupa ; Vanniarajan, Ayyasamy...
Eye and Vision. 8 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

7

Molecular Genetics and Clinical Aspects of Macular Corneal ..:

, In: Essentials in Ophthalmology; Advances in Vision Research, Volume III,

Murugan, Durga ; Adsumilli, Sindhura Devi ; Prajna, Namperumalsamy Venkatesh. - p. 289-302 , 2021

Link: https://doi.org/10.1007/..

8

Whole-exome sequencing identifies multiple pathogenic varia..:

Sundaresan, Periasamy ; Shah, MohdHussain ; Kumaran, Manojkumar...
Indian Journal of Ophthalmology. 69 (2021) 9 - p. 2461 , 2021

Link: https://doi.org/10.4103/..

9

Common variants in SOX-2 and congenital cataract genes cont..:

Yonova-Doing, Ekaterina ; Zhao, Wanting ; Igo Jr, Robert P....
Communications Biology. 3 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

10

Genetic characterization of Stargardt clinical phenotype in..:

Raj, Rajendran Kadarkarai ; Dhoble, Pankaja ; Anjanamurthy, Rupa...
Eye and Vision. 7 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

11

The protective variant rs7173049 at LOXL1 locus impacts on ..:

Berner, Daniel ; Hoja, Ursula ; Zenkel, Matthias...
Human Molecular Genetics. 28 (2019) 15 - p. 2531-2548 , 2019

Link: https://doi.org/10.1093/..

12

Mutant RAMP2 causes primary open-angle glaucoma via the CRL..:

Gong, Bo ; Zhang, Houbin ; Huang, Lulin...
Genetics in Medicine. 21 (2019) 10 - p. 2345-2354 , 2019

Link: https://doi.org/10.1038/..

13

A splicing mutation in aryl hydrocarbon receptor associated..:

Zhou, Yu ; Li, Shujin ; Huang, Lulin...
Human Molecular Genetics. 27 (2018) 14 - p. 2587-2587 , 2018

Link: https://doi.org/10.1093/..

14

A splicing mutation in aryl hydrocarbon receptor associated..:

Zhou, Yu ; Li, Shujin ; Huang, Lulin...
Human Molecular Genetics. 27 (2018) 14 - p. 2563-2572 , 2018

Link: https://doi.org/10.1093/..

15

Genomic Approaches to Eye Diseases: An Asian Perspective:

, In: Essentials in Ophthalmology; Advances in Vision Research, Volume II,

Devarajan, Bharanidharan ; Vanniarajan, Ayyasamy ; Sundaresan, Periasamy - p. 403-415 , 2018

Link: https://doi.org/10.1007/..