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Indian Journal of Pediatrics
|
May 8, 2025
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients
Meena Bajaj Lall, Anju Joshi, Shruti Agarwal, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
April 1, 2008
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I
Yoshihiro Maruo, Ishwar Chander Verma, Katsuyuki Matsui, et al.
European Journal of Human Genetics : EJHG
|
April 11, 2024
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, et al.
The American Journal of Psychiatry
|
April 3, 2009
Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa
Berend Feddersen, Larissa DE LA Fontaine, Jörn Oliver Sass, et al.
Indian Journal of Pediatrics
|
August 11, 2012
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent
Sunita Bijarnia, Sudha Kohli, Ratna Dua Puri, et al.
Indian Journal of Pediatrics
|
October 7, 2023
Next-Generation Sequencing in Unexplained Intellectual Disability
Sapna Sandal, Ishwar Chander Verma, Sunita Bijarnia Mahay, et al.
European Journal of Medical Genetics
|
August 11, 2015
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients
Deepti Gupta, Sunita Bijarnia-Mahay, Renu Saxena, et al.
Indian Journal of Pediatrics
|
February 18, 2026
Genetic Etiology in Children with Progressive Neuroregression
Swasti Pal, Ratna Dua Puri, Ishwar Chander Verma, et al.
American Journal of Medical Genetics. Part A
|
May 2, 2022
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, et al.
Genetic Testing and Molecular Biomarkers
|
May 27, 2016
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes
Deepti Gupta, Sunita Bijarnia-Mahay, Sudha Kohli, et al.
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Search research articles
Search
Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
Indian Journal of Pediatrics
|
May 8, 2025
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients
Meena Bajaj Lall, Anju Joshi, Shruti Agarwal, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
April 1, 2008
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I
Yoshihiro Maruo, Ishwar Chander Verma, Katsuyuki Matsui, et al.
European Journal of Human Genetics : EJHG
|
April 11, 2024
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Sameer Bhatia, Swasti Pal, Samarth Kulshrestha, et al.
The American Journal of Psychiatry
|
April 3, 2009
Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa
Berend Feddersen, Larissa DE LA Fontaine, Jörn Oliver Sass, et al.
Indian Journal of Pediatrics
|
August 11, 2012
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent
Sunita Bijarnia, Sudha Kohli, Ratna Dua Puri, et al.
Indian Journal of Pediatrics
|
October 7, 2023
Next-Generation Sequencing in Unexplained Intellectual Disability
Sapna Sandal, Ishwar Chander Verma, Sunita Bijarnia Mahay, et al.
European Journal of Medical Genetics
|
August 11, 2015
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients
Deepti Gupta, Sunita Bijarnia-Mahay, Renu Saxena, et al.
Indian Journal of Pediatrics
|
February 18, 2026
Genetic Etiology in Children with Progressive Neuroregression
Swasti Pal, Ratna Dua Puri, Ishwar Chander Verma, et al.
American Journal of Medical Genetics. Part A
|
May 2, 2022
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal, et al.
Genetic Testing and Molecular Biomarkers
|
May 27, 2016
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes
Deepti Gupta, Sunita Bijarnia-Mahay, Sudha Kohli, et al.
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of 4