Concepedia
3
Publications
73
Citations
H-Index
2021
Active since
Affiliations
Kasturba Medical College, Manipal(Current)
Kalawati Saran Children's Hospital
Amrita Institute of Medical Sciences and Research Centre
Manipal Academy of Higher Education
University of Michigan
Purvi Majethia is an author at Kasturba Medical College, Manipal.
Publications per year
2021–2023
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur et al. · European Journal of Human Genetics · 2021 · 39 citations · Full text
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel et al. · Neurology · 2022 · 20 citations · Full text
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
Shruti Pande, Purvi Majethia, Karthik Vijay Nair et al. · European Journal of Human Genetics · 2023 · 14 citations · Full text
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