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Kalpana Gowrishankar

Showing results (21-30 of 30) with videos related to

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Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.
American Journal of Medical Genetics. Part A|November 26, 2015
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathyGandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasiaAshwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, et al.
Nature Communications|April 7, 2021
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signalingLong Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, et al.
Journal of Human Genetics|July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type IIIDivya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.
American Journal of Medical Genetics. Part A|June 25, 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick diseasePrajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
GALNS mutations in Indian patients with mucopolysaccharidosis IVAAbdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, et al.
Gene|May 5, 2015
Recurrent and novel GLB1 mutations in IndiaAbdul Mueed Bidchol, Ashwin Dalal, Rakesh Trivedi, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
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Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.
American Journal of Medical Genetics. Part A|November 26, 2015
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathyGandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasiaAshwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, et al.
Nature Communications|April 7, 2021
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signalingLong Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, et al.
Journal of Human Genetics|July 12, 2020
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type IIIDivya Pasumarthi, Neerja Gupta, Jayesh Sheth, et al.
American Journal of Medical Genetics. Part A|June 25, 2016
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick diseasePrajnya Ranganath, Divya Matta, Gandham SriLakshmi Bhavani, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
GALNS mutations in Indian patients with mucopolysaccharidosis IVAAbdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, et al.
Gene|May 5, 2015
Recurrent and novel GLB1 mutations in IndiaAbdul Mueed Bidchol, Ashwin Dalal, Rakesh Trivedi, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
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