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Sumita Danda

Showing results (81-90 of 116) with videos related to

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European Journal of Medical Genetics|April 19, 2023
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinentSweta Das, Maya Thomas, Sangeetha Yoganathan, et al.
Medical Journal, Armed Forces India|February 2, 2026
Cytogenetic spectrum and clinical presentation of Klinefelter syndrome: A comprehensive study from South IndiaMadhu Balaji Sivakumar, Paresh Singhal, Gajanan Bhanudas Padmawar, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III DeficiencyNoel Deep Luke, Aditya Vijayakrishnan Nair, Ajith Sivadasan, et al.
Journal of Obstetrics and Gynaecology of India|May 20, 2025
Ovarian/Tubal Pathology in Premenopausal Women with Breast Cancer: A Prospective StudySahana Punneshetty, Sherin Daniel, Shawn Thomas, et al.
Pediatric Neurology|July 6, 2023
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based ReviewSangeetha Yoganathan, Himani Bhasin, Divyani Garg, et al.
European Journal of Medical Genetics|July 25, 2021
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinentSuneetha Susan Cleave Abraham, Sangeetha Yoganathan, Beena Koshy, et al.
Clinical Rheumatology|March 27, 2020
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from IndiaSumita Danda, Sony Mohan, Prabavathi Devaraj, et al.
Public Health Genomics|April 6, 2021
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective StudyAnitha M Barney, Sumita Danda, Aby Abraham, et al.
European Journal of Human Genetics : EJHG|November 6, 2024
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasiaSwati Singh, Sumita Danda, Neetu Sharma, et al.
European Journal of Medical Genetics|February 21, 2023
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited settingRayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
Pageof 12

Showing results (81-90 of 116) with videos related to

Sort By:
Pageof 12
European Journal of Medical Genetics|April 19, 2023
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinentSweta Das, Maya Thomas, Sangeetha Yoganathan, et al.
Medical Journal, Armed Forces India|February 2, 2026
Cytogenetic spectrum and clinical presentation of Klinefelter syndrome: A comprehensive study from South IndiaMadhu Balaji Sivakumar, Paresh Singhal, Gajanan Bhanudas Padmawar, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III DeficiencyNoel Deep Luke, Aditya Vijayakrishnan Nair, Ajith Sivadasan, et al.
Journal of Obstetrics and Gynaecology of India|May 20, 2025
Ovarian/Tubal Pathology in Premenopausal Women with Breast Cancer: A Prospective StudySahana Punneshetty, Sherin Daniel, Shawn Thomas, et al.
Pediatric Neurology|July 6, 2023
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based ReviewSangeetha Yoganathan, Himani Bhasin, Divyani Garg, et al.
European Journal of Medical Genetics|July 25, 2021
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinentSuneetha Susan Cleave Abraham, Sangeetha Yoganathan, Beena Koshy, et al.
Clinical Rheumatology|March 27, 2020
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from IndiaSumita Danda, Sony Mohan, Prabavathi Devaraj, et al.
Public Health Genomics|April 6, 2021
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective StudyAnitha M Barney, Sumita Danda, Aby Abraham, et al.
European Journal of Human Genetics : EJHG|November 6, 2024
Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasiaSwati Singh, Sumita Danda, Neetu Sharma, et al.
European Journal of Medical Genetics|February 21, 2023
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited settingRayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
Pageof 12