Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Akhilesh N. Pujar"'
Autor:
Gayatri R. Iyer, Roshan Kumar, Subhadra Poornima, Aruna Priya Kamireddy, Keerthi Konda Juturu, Lekhangda Bhatnagar, Srinka Arora, Vaishnavi Suresh, Prashant R. Utage, Sarah Bailur, Akhilesh N. Pujar, Qurratulain Hasan
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Disorders involving the musculoskeletal system are often identified with short stature and a range of orthopedic problems. The clinical and genetic heterogeneity of these diseases along with several characteristic overlaps makes d
Externí odkaz:
https://doaj.org/article/fb701ff063da4fd0a62b5fcb39629272
Publikováno v:
Ophthalmic Genetics. 43:64-72
Retinoblastoma (RB) is an intraocular childhood cancer develops due to inactivation of RB1 gene. Identification of RB1 genetic variants, correlating and confirming genetic test results with clinical outcomes are crucial for effective RB management.Re
Autor:
Mina Darooei, Subhadra Poornima, Bibi Umae Salma, Gayatri R Iyer, Akhilesh N Pujar, Srirambhatla Annapurna, Ashwin Shah, Srinivas Maddali, Qurratulain Hasan
Publikováno v:
Tumor Biology, Vol 39 (2017)
Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analys
Externí odkaz:
https://doaj.org/article/33c2df15250d437ba06a386644edff4e
Autor:
Kumarasamy Thangaraj, Ramesh Kekunnaya, Chhavi Dawar, Gaurav Gupta, Venugopalan Y Vishnu, Rajan Kumar Jha, Akhilesh N Pujar, Qurratulain Hasan
Publikováno v:
Genes, Vol 12, Iss 1300, p 1300 (2021)
Genes
Volume 12
Issue 9
Genes
Volume 12
Issue 9
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes loss of central vision. Three primary variants (m.3460G>
A, m.11778G>
A, and m.14484T>
C) and about 16 secondary variants are responsible for LH
A, m.11778G>
A, and m.14484T>
C) and about 16 secondary variants are responsible for LH
Autor:
Aruna Priya, Lekhanga Bhatnagar, Gayatri R Iyer, Qurratulain Hasan, Srinka Arora, Subhadra Poornima, Prashanth Utage, Vaishnavi Suresh, Roshan Kumar, Akhilesh N Pujar, Sarah Bailur, Keerthi Konda Juturu
Background: Disorders involving the musculoskeletal system are often identified with short stature and a range of orthopedic problems. The clinical and genetic heterogeneity of these diseases, with several characteristic overlaps, makes specific diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96c52b8c4bb1dd1c2ecdc36cfd53dab6
https://doi.org/10.21203/rs.3.rs-431437/v1
https://doi.org/10.21203/rs.3.rs-431437/v1