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Neerja Gupta

Showing results (221-230 of 238) with videos related to

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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.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, 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.
Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
American Journal of Medical Genetics. Part A|May 20, 2015
Novel and recurrent mutations in WISP3 and an atypical phenotypeGandham SriLakshmi Bhavani, Hitesh Shah, Ashwin B Dalal, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, 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.
Pageof 24

Showing results (221-230 of 238) with videos related to

Sort By:
Pageof 24
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.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, 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.
Human Mutation|July 17, 2021
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiencyDipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
American Journal of Medical Genetics. Part A|May 20, 2015
Novel and recurrent mutations in WISP3 and an atypical phenotypeGandham SriLakshmi Bhavani, Hitesh Shah, Ashwin B Dalal, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, 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.
Pageof 24