Items where Author is "Gandham, SriLakshmi Bhavani"
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Number of items: 9.

Article

Girisha, KM and Gandham, SriLakshmi Bhavani and Shah, Hitesh and Moirangthem, Amita and Shukla, Anju (2020) Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1:Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American Journal of Medical Genetics- Part A, 182. pp. 338-347. ISSN 1552-4825

Kaur, Parneet and Gandham, SriLakshmi Bhavani and Raj, Arun and Girisha, KM and Shukla, Anju (2019) Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. Journal of Human Genetics, 64. pp. 1237-1242. ISSN 1434-5161

Uttarilli, Anusha and Shah, Hitesh and Gandham, SriLakshmi Bhavani and Upadhyai, Priyanka and Shukla, Anju and Katta, Girisha M (2019) Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. Bone, 120. pp. 204-211. ISSN 8756-3282

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Katta, Girisha M (2018) Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. Bone, 368. pp. 368-377.

Girisha, KM and Neethukrishna, K and Shukla, Anju and Gandham, SriLakshmi Bhavani (2018) The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Human Mutation. pp. 1-11.

Salian, Smrithi and Gandham, SriLakshmi Bhavani and Shukla, Anju and Girisha, KM (2017) Additional Three Patients With Smith-McCort Dysplasia Due to Novel RAB33B Mutations. American Journal of Medical Genetics- Part A, 173 (3). pp. 1-8. ISSN 1552-4825

Gandham, SriLakshmi Bhavani and Girisha, KM (2016) Metatropic Dysplasia with a Novel Mutation in TRPV4. Indian Pediatrics, 53 (8). pp. 735-737. ISSN 0019-6061

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Kamath, Asha and Girisha, KM (2015) Clinical and Mutation Profile of Multicentric Osteolysis Nodulosis and Arthropathy. American Journal of Medical Genetics. pp. 1-8.

Gandham, SriLakshmi Bhavani and Shah, Hitesh and Shukla, Anju and Girisha, KM (2015) Progressive Pseudorheumatoid Dysplasia. GeneReviews. pp. 1-16.

This list was generated on Tue Jan 18 02:10:03 2022 UTC.