Zobrazeno 1 - 5
of 5
pro vyhledávání: '"S. G. Thenral"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 452-456 (2021)
Externí odkaz:
https://doaj.org/article/591111a66a7f4438a0e61de0be405fa5
Autor:
V. Manjunath, S. G. Thenral, B. R. Lakshmi, Atchayaram Nalini, A. Bassi, K. Priya Karthikeyan, K. Piyusha, R. Menon, A. Malhotra, L. S. Praveena, R. M. Anjanappa, S. M. Sakthivel Murugan, Kiran Polavarapu, Mainak Bardhan, V. Preethish-Kumar, Seena Vengalil, Saraswati Nashi, S. Sanga, M. Acharya, R. Raju, V. R. Pai, V. L. Ramprasad, R. Gupta
Publikováno v:
Human Mutation. 2023:1-10
The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a2ebf1357bb68b9dadb2d6c7a379155
https://doi.org/10.1155/2023/4362273
https://doi.org/10.1155/2023/4362273
Publikováno v:
European Heart Journal. 44
Funding Acknowledgements Type of funding sources: None. Background Hypertrophic cardiomyopathy (HCM), characterized by unexplained left ventricular hypertrophy and outcomes ranging from normal life expectancy to heart failure and sudden cardiac death
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd4ae046ed0c994cb176e203713b4811
https://doi.org/10.1093/eurheartj/ehac779.068
https://doi.org/10.1093/eurheartj/ehac779.068
Autor:
C. P. Ravi Kumar, Parag M. Tamhankar, Radhika Manohar, Sheetal Sharda, G. K. Madhavilatha, S. G. Thenral, Sandhya Nair, A. K. Bojamma
Publikováno v:
Journal of Genetics. 102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ceac54c39c46be74a3d1abd0386c28da
https://doi.org/10.1007/s12041-022-01409-3
https://doi.org/10.1007/s12041-022-01409-3
Autor:
Rajiv Sinha, Subal Pradhan, Sushmita Banerjee, Afsana Jahan, Shakil Akhtar, Amitava Pahari, Sumantra Raut, Prince Parakh, Surupa Basu, Priyanka Srivastava, Snehamayee Nayak, S. G. Thenral, V. Ramprasad, Emma Ashton, Detlef Bockenhauer, Kausik Mandal
Publikováno v:
Pediatric nephrology (Berlin, Germany). 37(8)
Inherited tubulopathies are a heterogeneous group of genetic disorders making whole-exome sequencing (WES) the preferred diagnostic methodology.This was a multicenter descriptive study wherein children (18 years) with clinically suspected tubular dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93bdfc00d31646f9039179c9e16debcb
https://pubmed.ncbi.nlm.nih.gov/35006361
https://pubmed.ncbi.nlm.nih.gov/35006361