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المؤلفون: Ishpreet K. Biji, Sunita Bijarnia Mahay, Renu Saxena, Ishwar Verma, Benu Kumar, Ratna Dua Puri
المصدر: Indian Journal of Pediatrics. 90:83-86
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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المؤلفون: Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat
المصدر: Neuromuscular Disorders. 31:431-441
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, India, Late onset, Disease, Compound heterozygosity, Left ventricular hypertrophy, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Genetics (clinical), Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Homozygote, Muscle weakness, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, RNA Splice Sites, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Ishpreet K. Biji, Siddharth Yadav, Samarth Kulshrestha, Renu Saxena, Sudha Kohli, I.C. Verma, Benu Kumar, Ratna Dua Puri
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: History, Genotype, Polymers and Plastics, Anion Transport Proteins, Computational Biology, General Medicine, Osteochondrodysplasias, Industrial and Manufacturing Engineering, Phenotype, Pregnancy, Sulfate Transporters, Mutation, Genetics, Humans, Female, Business and International Management, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7722a29f79dc26a05d46d82b0f99c947
https://doi.org/10.2139/ssrn.4096545 -
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المؤلفون: Raman Puri, Anjali Arora, Ratna Dua Puri, Sanghamitra Mishra, Sireesha Movva, Renu Saxena, Jitendra Pal Singh Sawhney, Samarth Kulshrestha, Ishwar C. Verma, Ishpreet K. Biji, Prahlad Balakrishnan, V. L. Ramprasad, Sanika Apte, Nitika Setia
المصدر: Journal of Clinical Lipidology. 14:35-45
مصطلحات موضوعية: Adult, Male, Proband, Apolipoprotein B, Endocrinology, Diabetes and Metabolism, India, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Genetic analysis, Hyperlipoproteinemia Type II, Genetic Heterogeneity, 03 medical and health sciences, symbols.namesake, Apolipoproteins E, 0302 clinical medicine, Asian People, Internal Medicine, Humans, Medicine, 030212 general & internal medicine, Gene, Aged, Genetics, Sanger sequencing, Nutrition and Dietetics, biology, business.industry, Genetic heterogeneity, PCSK9, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Receptors, LDL, Apolipoprotein B-100, Mutation, biology.protein, symbols, Female, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, business