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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 subcontinent
Sweta 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 India
Madhu 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 Deficiency
Noel 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 Study
Sahana Punneshetty, Sherin Daniel, Shawn Thomas, et al.
Pediatric Neurology
|
July 6, 2023
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review
Sangeetha 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 subcontinent
Suneetha 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 India
Sumita 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 Study
Anitha 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 dysplasia
Swati 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 setting
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
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Search research articles
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Showing results (81-90 of 116) with videos related to
Sort By:
Page
of 12
European Journal of Medical Genetics
|
April 19, 2023
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
Sweta 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 India
Madhu 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 Deficiency
Noel 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 Study
Sahana Punneshetty, Sherin Daniel, Shawn Thomas, et al.
Pediatric Neurology
|
July 6, 2023
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review
Sangeetha 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 subcontinent
Suneetha 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 India
Sumita 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 Study
Anitha 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 dysplasia
Swati 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 setting
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
Page
of 12