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Journal of Human Genetics
|
January 25, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
Dhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, et al.
Biorxiv : the Preprint Server for Biology
|
January 20, 2025
<i>MLC1</i> alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage
Saumya Sharma, Vishal Bharti, Prosad Kumar Das, et al.
Orphanet Journal of Rare Diseases
|
March 27, 2026
MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage
Saumya Sharma, Vishal Bharti, Prosad Kumar Das, et al.
The Journal of Pediatrics
|
October 14, 2019
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease
Neerja Gupta, Zoheb B Kazi, Sheela Nampoothiri, et al.
Current Oncology (Toronto, Ont.)
|
March 26, 2025
Chest Wall Perforator Flaps in Breast Conservation: Versatile, Affordable, and Scalable: Insights from the Largest Single-Surgeon Audit from India
C B Koppiker, Rupa Mishra, Vaibhav Jain, 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.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
November 17, 2021
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel <i>LOXL3</i> Mutation
Anubhuti Sood, Uzma Shamim, Om P Kharbanda, et al.
Annals of Human Genetics
|
April 22, 2022
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, et al.
JIMD Reports
|
May 28, 2015
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.
JIMD Reports
|
March 13, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.
Page
of 24
Search research articles
Search
Showing results (181-190 of 238) with videos related to
Sort By:
Page
of 24
Journal of Human Genetics
|
January 25, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
Dhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, et al.
Biorxiv : the Preprint Server for Biology
|
January 20, 2025
<i>MLC1</i> alteration in iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage
Saumya Sharma, Vishal Bharti, Prosad Kumar Das, et al.
Orphanet Journal of Rare Diseases
|
March 27, 2026
MLC1 alteration in human iPSCs give rise to disease-like cellular vacuolation phenotype in the astrocyte lineage
Saumya Sharma, Vishal Bharti, Prosad Kumar Das, et al.
The Journal of Pediatrics
|
October 14, 2019
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease
Neerja Gupta, Zoheb B Kazi, Sheela Nampoothiri, et al.
Current Oncology (Toronto, Ont.)
|
March 26, 2025
Chest Wall Perforator Flaps in Breast Conservation: Versatile, Affordable, and Scalable: Insights from the Largest Single-Surgeon Audit from India
C B Koppiker, Rupa Mishra, Vaibhav Jain, 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.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
November 17, 2021
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel <i>LOXL3</i> Mutation
Anubhuti Sood, Uzma Shamim, Om P Kharbanda, et al.
Annals of Human Genetics
|
April 22, 2022
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, et al.
JIMD Reports
|
May 28, 2015
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.
JIMD Reports
|
March 13, 2015
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients
Neerja Gupta, Pawan Kumar Singh, Manoj Kumar, et al.
Page
of 24