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European Journal of Human Genetics : EJHG
|
October 6, 2022
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
Ananthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy, et al.
The Lancet Regional Health. Southeast Asia
|
July 5, 2024
<i>CFTR</i> mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India
Sneha D Varkki, Rekha Aaron, Aaron Chapla, et al.
Pediatric Dermatology
|
April 12, 2022
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India
Minu Jose Chiramel, Lydia Mathew, Rekha Athirayath, et al.
Rheumatology International
|
August 13, 2017
Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis
Aswin M Nair, Ruchika Goel, M Hindhumati, et al.
The Indian Journal of Medical Research
|
March 8, 2014
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients
Vijay R Boggula, Anju Shukla, Sumita Danda, et al.
Annals of Indian Academy of Neurology
|
February 15, 2020
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, et al.
Journal of Human Genetics
|
October 17, 2023
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort
Debashish Danda, Ruchika Goel, Jayakanthan Kabeerdoss, et al.
Journal of Clinical Neuromuscular Disease
|
August 21, 2018
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Pavalan Selvam, Gautham Arunachal, Sumita Danda, et al.
Indian Journal of Pediatrics
|
October 21, 2011
An Indian boy with additional features in Pallister-Killian syndrome
Krati Shah, Renu George, Evangelynn Singh Balla, et al.
Clinical Genetics
|
December 10, 2023
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
Payal Kamdar, Thenral S Geetha, Thomas Palocaren, et al.
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Search research articles
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Showing results (51-60 of 116) with videos related to
Sort By:
Page
of 12
European Journal of Human Genetics : EJHG
|
October 6, 2022
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
Ananthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy, et al.
The Lancet Regional Health. Southeast Asia
|
July 5, 2024
<i>CFTR</i> mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India
Sneha D Varkki, Rekha Aaron, Aaron Chapla, et al.
Pediatric Dermatology
|
April 12, 2022
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India
Minu Jose Chiramel, Lydia Mathew, Rekha Athirayath, et al.
Rheumatology International
|
August 13, 2017
Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis
Aswin M Nair, Ruchika Goel, M Hindhumati, et al.
The Indian Journal of Medical Research
|
March 8, 2014
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients
Vijay R Boggula, Anju Shukla, Sumita Danda, et al.
Annals of Indian Academy of Neurology
|
February 15, 2020
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, et al.
Journal of Human Genetics
|
October 17, 2023
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort
Debashish Danda, Ruchika Goel, Jayakanthan Kabeerdoss, et al.
Journal of Clinical Neuromuscular Disease
|
August 21, 2018
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Pavalan Selvam, Gautham Arunachal, Sumita Danda, et al.
Indian Journal of Pediatrics
|
October 21, 2011
An Indian boy with additional features in Pallister-Killian syndrome
Krati Shah, Renu George, Evangelynn Singh Balla, et al.
Clinical Genetics
|
December 10, 2023
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
Payal Kamdar, Thenral S Geetha, Thomas Palocaren, et al.
Page
of 12