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Sumita Danda

Showing results (101-110 of 116) with videos related to

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JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
European Journal of Medical Genetics|February 10, 2022
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type IINeha Agrawal, Gaurav Verma, Deepti Saxena, et al.
JAMA|February 18, 2015
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
BMC Medical Genetics|February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationJayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
Neurology. Genetics|May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, 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.
Epilepsia Open|August 16, 2023
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from IndiaBalamurugan Nagarajan, Vykuntaraju K Gowda, Sangeetha Yoganathan, et al.
Pageof 12

Showing results (101-110 of 116) with videos related to

Sort By:
Pageof 12
JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
European Journal of Medical Genetics|February 10, 2022
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type IINeha Agrawal, Gaurav Verma, Deepti Saxena, et al.
JAMA|February 18, 2015
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
BMC Medical Genetics|February 16, 2019
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutationJayesh Sheth, Riddhi Bhavsar, Mehul Mistri, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.
Neurology. Genetics|May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy PhenotypesMadeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, 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.
Epilepsia Open|August 16, 2023
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from IndiaBalamurugan Nagarajan, Vykuntaraju K Gowda, Sangeetha Yoganathan, et al.
Pageof 12