Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bharathram Uppilli"'
Autor:
Dheeraj D. Bhatt, Susi Mathews, Vanshika Ahuja, Uzma Shamim, Bharathram Uppilli, Shreya Bari, Dinesh Kumar, Faruq Mohammed
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Introduction There are limited data on family screening and genetic testing in pediatric cardiomyopathy from India. This study was conducted to describe the morphologic spectrum and identify potential familial and genetic causes of pediatric
Externí odkaz:
https://doaj.org/article/608f939bcf8741f9bc25b659b13a1bb3
Autor:
Saraswati Nashi, Kiran Polavarapu, Mainak Bardhan, Ram Murthy Anjanappa, Veeramani Preethish-Kumar, Seena Vengalil, Hansashree Padmanabha, Thenral S. Geetha, P. V. Prathyusha, Vedam Ramprasad, Aditi Joshi, Tanushree Chawla, Gopikirshnan Unnikrishnan, Pooja Sharma, Akshata Huddar, Bharathram Uppilli, Abel Thomas, Dipti Baskar, Susi Mathew, Deepak Menon, Gautham Arunachal, Mohammed Faruq, Kumarasamy Thangaraj, Atchayaram Nalini
Publikováno v:
Neurogenetics.
Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant disability in the young population. There is a need for studies on large cohorts to describe the clinical, genotypic and natural history in our subcontinent. To des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a27537a511aac6c8577c16c46ab5a7
https://pubmed.ncbi.nlm.nih.gov/36580222
https://pubmed.ncbi.nlm.nih.gov/36580222
Autor:
Uzma Shamim, Shantanu Sengupta, Pooja Sharma, Binuja Varma, Vandana Jain, Mohammed Faruq, Sana Zahra, Sara L. Hillman, Khushboo Singhal, Archana Vats, Padma Dolma, Asokachandran Vivekanand, Mitali Mukerji, Aradhana Mathur, Arti Yadav, Ankita Narang, Salwa Naushin, Bhavana Prasher, Bharathram Uppilli, Shaista Parveen, Malika Seth
Publikováno v:
Human Mutation. 41:1833-1847
There have been concerted efforts toward cataloging rare and deleterious variants in different world populations using high-throughput genotyping and sequencing-based methods. The Indian population is underrepresented or its information with respect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f336b44c8b1bfcfbc7832d4a9bfd725b
https://doi.org/10.1002/humu.24102
https://doi.org/10.1002/humu.24102
Autor:
Jyotsna Singh, Varun Suroliya, Veeramani Preethish-Kumar, Niranjan Prakash Mahajan, Mohammed Faruq, Muddasu Keerthipriya, Deepti Vibha, Atchayaram Nalini, Achal Kumar Srivastava, Uzma Shamim, Sakshi Ambawat, Chevula Pradeep-Chandra-Reddy, Manjusha G Warrier, Aneesa Thomas, Pooja Sharma, Bharathram Uppilli, Sana Zahra, Shankar Chanchal, Aradhana Mathur, Neeraja Reddy, Arun Sadasivan, Kiran Polavarapu, Priya Treesa Thomas, Malika Seth, Shaista Parveen, Saraswati Nashi, Seena Vengalil
Publikováno v:
Neurobiology of aging. 88
Hexanucleotide repeat expansion in C9orf72 is defined as a major causative factor for familial amyotrophic lateral sclerosis (ALS). The mutation frequency varies dramatically among populations of different ethnicity; however, in most cases, C9orf72 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e77c0ded398cd0b1a2181e9da74cef0
https://pubmed.ncbi.nlm.nih.gov/32035847
https://pubmed.ncbi.nlm.nih.gov/32035847