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International Journal of Molecular and Cellular Medicine|April 24, 2018
Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney DiseaseShewata Pandita, Deepshikha Maurya, Vijaya Ramachandran, et al.The Indian Journal of Medical Research|September 16, 2014
Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 geneUdhaya H Kotecha, Sireesha Movva, Deepak Sharma, et al.Journal of Pediatric Intensive Care|January 28, 2020
Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in IndiaJyotsna Verma, Papai Roy, Divya C Thomas, et al.Prenatal Diagnosis|July 31, 2015
Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disordersJyotsna Verma, Divya C Thomas, Sandeepika Sharma, et al.JIMD Reports|March 24, 2016
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage DisordersJyotsna Verma, Divya C Thomas, David C Kasper, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 14, 2015
Inherited metabolic disorders: Quality management for laboratory diagnosisJyotsna Verma, Divya C Thomas, Sandeepika Sharma, et al.Indian Pediatrics|June 13, 2022
Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern IndiaKanika Singh, Ratna Dua Puri, 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 patientsDeepti Gupta, Sunita Bijarnia-Mahay, Renu Saxena, et al.Journal of Neuromuscular Diseases|December 5, 2021
Late Onset Pompe Disease with Novel Mutations and Atypical PhenotypesTanushree Chawla, Veeramani Preethish-Kumar, Kiran Polavarapu, et al.Journal of Human Genetics|March 1, 2019
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKDShewata Pandita, Vijaya Ramachandran, Prahlad Balakrishnan, et al.Pageof 3