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

Article

Neethukrishna, K and Shukla, Anju and Katta, Girisha M and Bhavani, Gandham SriLakshmi (2021) A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians. Human Mutation, 42 (4). pp. 1-47. ISSN 1059-7794

Katta, Girisha M and Neethukrishna, K and Bhavani, Gandham SriLakshmi and Shukla, Anju (2019) Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. The American Journal of Human Genetics, 104 (3). pp. 439-453. ISSN 0002-9297

Narayanan, Dhanya L and Shukla, Anju and Kausthubham, Neethukrishna and Bhavani, Gandham SriLakshmi and Shah, Hitesh and Girisha, KM (2019) An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. American Journal of Medical Genetics Part- A, 179A. pp. 1709-1717. ISSN 1552-4833

Bhavani, Gandham SriLakshmi and Girisha, KM (2016) Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann–Pick disease. American Journal of Medical Genetics Part-A, 170 (10). pp. 2719-2730.

Girisha, KM and Shah, Hitesh and Bhavani, Gandham SriLakshmi (2016) A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics, 24 (8). pp. 1206-1210.

Girisha, KM and Shukla, Anju and Bhavani, Gandham SriLakshmi and Hebbar, Malavika and Rajagopal, KV (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clinical Genetics, 90 (12). pp. 536-539. ISSN 0009-9163

Bhavani, Gandham SriLakshmi and Girisha, KM (2015) Novel mutation in an Indian patient with transcobalamin II deficiency. The Indian Journal of Pediatrics. pp. 1-2. ISSN 0019-5456

Bhavani, Gandham SriLakshmi and Shah, Hitesh and Shukla, Anju and Girisha, KM (2015) Novel and recurrent mutations in WISP3 and an atypical phenotype. American Journal of Medical Genetics Part A. pp. 1-4.

Girisha, KM and Bhavani, Gandham SriLakshmi and Shah, Hitesh (2014) A Syndrome of Facial Dysmorphism, Cubital Pterygium, Short Distal Phalanges, Swan Neck Deformity of Fingers, and Scoliosis. American Journal Of Medical Genetics Part - A. pp. 1-6.

This list was generated on Sat Jan 29 13:54:23 2022 UTC.