GB
Gandham SriLakshmi Bhavani
Sultan Qaboos University Hospital, Kasturba Medical College, Manipal, Kasturba Medical College Manipal, Kasturba Medical College
0000-0001-5284-8909
Employment
-
Sultan Qaboos University Hospital Senior Specialist2024 - Present
-
Kasturba Medical College, Manipal Associate Professor2023 - 2023
-
Kasturba Medical College Assistant Professor2018 - 2023
-
Kasturba Medical College Manipal Senior Research Fellow2015 - 2017
Education
-
Kasturba Medical College Manipal Ph.D2012 - 2017
Projects & Funding
Projects & funding information is unavailable.
Publications (50)
- PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient Save
- Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia Save
- Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations Save
- Expansion of Phenotypic Spectrum in Hyperphosphatemic Familial Tumoral Calcinosis. Save
- Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias Save
- Exome Sequencing in Monogenic Forms of Rickets. Save
- Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children. Save
- Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Save
- Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII. Save
- Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13. Save