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Indian Journal of Pediatrics
|
June 12, 2025
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies: Authors' Reply
Neerja Gupta, Bhawana Aggarwal, Anushree Mishra, et al.
Birth Defects Research
|
November 23, 2016
Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based survey
Shashi Kant, Sumit Malhotra, Arvind Kumar Singh, et al.
Indian Journal of Pediatrics
|
October 9, 2024
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
Neerja Gupta, Bhawana Aggarwal, Anushree Mishra, et al.
Clinical Genetics
|
January 12, 2023
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum
Nitika Langeh, Sumedha Saluja, Abdul Samath Ethayathulla, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2024
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant
Mounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, et al.
Prenatal Diagnosis
|
September 11, 2025
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort
Neerja Gupta, Mounika Endrakanti, Rohit Sadanand, et al.
European Journal of Medical Genetics
|
June 13, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
Mounika Endrakanti, Sumedha Saluja, Abdul S Ethayathulla, et al.
Indian Journal of Pediatrics
|
June 8, 2012
Norrie disease: first mutation report and prenatal diagnosis in an Indian family
Manju Ghosh, Shipra Sharma, Shivaram Shastri, et al.
Journal of Pediatric Hematology/Oncology
|
February 26, 2021
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review
Anshula Tayal, Jagdish P Meena, Ravneet Kaur, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2022
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant
Neerja Gupta, Mounika Endrakanti, Noopur Gupta, et al.
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Search research articles
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Showing results (121-130 of 237) with videos related to
Sort By:
Page
of 24
Indian Journal of Pediatrics
|
June 12, 2025
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies: Authors' Reply
Neerja Gupta, Bhawana Aggarwal, Anushree Mishra, et al.
Birth Defects Research
|
November 23, 2016
Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based survey
Shashi Kant, Sumit Malhotra, Arvind Kumar Singh, et al.
Indian Journal of Pediatrics
|
October 9, 2024
Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
Neerja Gupta, Bhawana Aggarwal, Anushree Mishra, et al.
Clinical Genetics
|
January 12, 2023
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum
Nitika Langeh, Sumedha Saluja, Abdul Samath Ethayathulla, et al.
American Journal of Medical Genetics. Part A
|
April 3, 2024
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant
Mounika Endrakanti, Jyoti Sharma, Abdul S Ethayathulla, et al.
Prenatal Diagnosis
|
September 11, 2025
Genomic Exploration of Severe Mendelian Developmental Anomalies: Insights From Exome Sequencing Analyses in a Large Indian Cohort
Neerja Gupta, Mounika Endrakanti, Rohit Sadanand, et al.
European Journal of Medical Genetics
|
June 13, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
Mounika Endrakanti, Sumedha Saluja, Abdul S Ethayathulla, et al.
Indian Journal of Pediatrics
|
June 8, 2012
Norrie disease: first mutation report and prenatal diagnosis in an Indian family
Manju Ghosh, Shipra Sharma, Shivaram Shastri, et al.
Journal of Pediatric Hematology/Oncology
|
February 26, 2021
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review
Anshula Tayal, Jagdish P Meena, Ravneet Kaur, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2022
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant
Neerja Gupta, Mounika Endrakanti, Noopur Gupta, et al.
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of 24