Research Output per year
Personal profile
Research Interests
Orthopaedics
External positions
Fingerprint Dive into the research topics where Hitesh Hasmukhlal Shah is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Legg-Calve-Perthes Disease
Medicine & Life Sciences
Tibia
Medicine & Life Sciences
Mutation
Medicine & Life Sciences
Osteogenesis Imperfecta
Medicine & Life Sciences
Thigh
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Fibula
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 2007 2019
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
Narayanan, D. L., Shukla, A., Kausthubham, N., Bhavani, G. S., Shah, H., Mortier, G. & Girisha, K. M., 01-01-2019, In : American Journal of Medical Genetics, Part A. 179, 9, p. 1709-1717 9 p.Research output: Contribution to journal › Article
Skeleton
Proteins
Brachydactyly
Endoribonucleases
Exome
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
Girisha, K. M., Bhavani, G. S., Shah, H., Moirangthem, A., Shukla, A., Kim, O. H., Nishimura, G. & Mortier, G. R., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Epiphyses
Causality
Spine
Phenotype
Osteoarthritis with Mild Chondrodysplasia
Management of the knee problems in spastic cerebral palsy
Ganjwala, D. & Shah, H., 01-01-2019, In : Indian Journal of Orthopaedics. 53, 1, p. 53-62 10 p.Research output: Contribution to journal › Article
Cerebral Palsy
Gait
Knee
Natural History
Decision Making
1
Citation
(Scopus)
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India
Uttarilli, A., Shah, H., Bhavani, G. S. L., Upadhyai, P., Shukla, A. & Girisha, K. M., 01-03-2019, In : Bone. 120, p. 204-211 8 p.Research output: Contribution to journal › Article
India
Dysostoses
Osteogenesis Imperfecta
Inborn Genetic Diseases
Genetic Heterogeneity
1
Citation
(Scopus)
A review of skeletal dysplasia research in India
Uttarilli, A., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2018, In : Journal of Postgraduate Medicine. 64, 2, p. 98-103 6 p.Research output: Contribution to journal › Review article
Publications
India
Research
Phenotype
Genetic Association Studies