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International Journal of Rheumatic Diseases
|
April 21, 2017
Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype
Ruchika Goel, Jayakanthan Kabeerdoss, Hindhumathi Mohan, et al.
Indian Pediatrics
|
November 27, 2013
Neonatal hearing screening--experience from a tertiary care hospital in southern India
Ann Mary Augustine, Atanu Kumar Jana, Kurien Anil Kuruvilla, et al.
BMC Medical Genetics
|
October 26, 2014
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
Dhanya Kumaran, Krishnan Balagopal, Reginald George Alex Tharmaraj, et al.
Prenatal Diagnosis
|
May 19, 2025
Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India-An LMIC Setting-Over Half a Decade
Lois Sara James, Noel Deep Luke, Eunice Sindhuvi, et al.
Brain & Development
|
May 31, 2022
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency
Praisy Joy, Vrisha Madhuri, Thomas Palocaren, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2016
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population
Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, et al.
Medical Journal, Armed Forces India
|
November 21, 2025
The spectrum of cytogenetics and clinical profile in Robertsonian translocations: An experience of two decades from tertiary referral center in India
Krishna Kumar Maharjan, Paresh Singhal, Vandana Kamath, et al.
Journal of Genetics
|
November 10, 2020
Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent
Payal Kamdar, Maya Thomas, Sangeetha Yoganathan, et al.
Indian Journal of Pediatrics
|
September 20, 2024
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency
Lavanya Ravichandran, Shriti Paul, A Rekha, et al.
The Indian Journal of Medical Research
|
December 31, 2024
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India
Suneetha Susan Cleave Abraham, Anitha Barney, Sony Mohan, et al.
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Search research articles
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Showing results (71-80 of 116) with videos related to
Sort By:
Page
of 12
International Journal of Rheumatic Diseases
|
April 21, 2017
Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype
Ruchika Goel, Jayakanthan Kabeerdoss, Hindhumathi Mohan, et al.
Indian Pediatrics
|
November 27, 2013
Neonatal hearing screening--experience from a tertiary care hospital in southern India
Ann Mary Augustine, Atanu Kumar Jana, Kurien Anil Kuruvilla, et al.
BMC Medical Genetics
|
October 26, 2014
Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort
Dhanya Kumaran, Krishnan Balagopal, Reginald George Alex Tharmaraj, et al.
Prenatal Diagnosis
|
May 19, 2025
Investigating Trends and Challenges in Prenatal Diagnosis of Monogenic Conditions in India-An LMIC Setting-Over Half a Decade
Lois Sara James, Noel Deep Luke, Eunice Sindhuvi, et al.
Brain & Development
|
May 31, 2022
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency
Praisy Joy, Vrisha Madhuri, Thomas Palocaren, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2016
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population
Atanu Kumar Dutta, Sumita Danda, Karthik Muthusamy, et al.
Medical Journal, Armed Forces India
|
November 21, 2025
The spectrum of cytogenetics and clinical profile in Robertsonian translocations: An experience of two decades from tertiary referral center in India
Krishna Kumar Maharjan, Paresh Singhal, Vandana Kamath, et al.
Journal of Genetics
|
November 10, 2020
Methyl-CpG-binding protein 2 gene mutations and its association with epilepsy: a single centre study from the Indian subcontinent
Payal Kamdar, Maya Thomas, Sangeetha Yoganathan, et al.
Indian Journal of Pediatrics
|
September 20, 2024
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency
Lavanya Ravichandran, Shriti Paul, A Rekha, et al.
The Indian Journal of Medical Research
|
December 31, 2024
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India
Suneetha Susan Cleave Abraham, Anitha Barney, Sony Mohan, et al.
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of 12