Research output per year
Research output per year
UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):
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Dive into the research topics where Department of Medical Genetics, Kasturba Medical College, Manipal is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.
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Profiles
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Sri Lakshmi Bhavani Gandham
- Department of Medical Genetics, Kasturba Medical College, Manipal - Assistant Professor
Person: Academic
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Girisha M Katta
- Department of Medical Genetics, Kasturba Medical College, Manipal - Professor & Head
Person: Academic
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Dhanya Lakshmi N
- Department of Medical Genetics, Kasturba Medical College, Manipal - Associate Professor
Person: Academic
Research output
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A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies
Nampoothiri, S., Dsouza, J. M., Yesodharan, D., Girisha, K. M., Eapen, M., Sivasankaran Nair, S., Pillai, B. V. & Radhakrishnan, P., 03-2023, In: Clinical Genetics. 103, 3, p. 369 - 370 2 p.Research output: Contribution to journal › Letter › peer-review
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A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9
Shravya, M. S., Mathew, M., Vasudeva, A., Girisha, K. M. & Nayak, S. S., 01-2023, In: Clinical Genetics. 103, 1, p. 127-129 3 p.Research output: Contribution to journal › Letter › peer-review
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Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence
Nayak, S. S., Harkness, R., Shukla, A., Banka, S., Newman, W. G. & Girisha, K. M., 03-2023, In: American Journal of Medical Genetics, Part A. 191, 3, p. 730 - 741 12 p.Research output: Contribution to journal › Article › peer-review
Equipment
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-80oC Freezer
Rama Rao Damerla (Manager)
Department of Medical Genetics, Kasturba Medical College, ManipalFacility/equipment: Equipment
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ABI 3500 Series Genetic Analyzer
Girisha M Katta (Manager)
Department of Medical Genetics, Kasturba Medical College, ManipalFacility/equipment: Equipment
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Bio-Rad powerpac basic power supply
Rama Rao Damerla (Manager)
Department of Medical Genetics, Kasturba Medical College, ManipalFacility/equipment: Equipment