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1
المؤلفون: Papai Roy, Ratna Dua Puri, Divya C. Thomas, Jyotsna Verma, I. C. Verma
المصدر: Clinica Chimica Acta. 521:177-190
مصطلحات موضوعية: 2019-20 coronavirus outbreak, medicine.medical_specialty, Clinical Biochemistry, Lysosomal storage disorders, Biochemistry, Gastroenterology, Diagnostic aid, Lyso, Tandem Mass Spectrometry, Internal medicine, Humans, Medicine, In patient, Sphingolipids, business.industry, Biochemistry (medical), Indian population, General Medicine, respiratory system, medicine.disease, Fabry disease, Molecular analysis, Lysosomal Storage Diseases, Fabry Disease, lipids (amino acids, peptides, and proteins), Lysosomes, business, Biomarkers, Chromatography, Liquid
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2
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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3
المؤلفون: Papai Roy, Sunita Bijarnia-Mahay, Jyotsna Verma, Ishwar C. Verma, Azad Singh, Geetu Jhingan, Divya C. Thomas
المصدر: J Pediatr Intensive Care
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, G6PD activity, 030208 emergency & critical care medicine, Critical Care and Intensive Care Medicine, medicine.disease, Congenital hypothyroidism, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Health care, medicine, Congenital adrenal hyperplasia, business, Dried blood, Glucose-6-phosphate dehydrogenase deficiency, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb1ac339e863a6f1e40210d496d2f021
https://doi.org/10.1055/s-0039-1698424 -
4
المؤلفون: Ratna Dua Puri, I. C. Verma, Jyotsna Verma, Divya C. Thomas, Sandeepika Sharma
المصدر: Clinical biochemistry. 89
مصطلحات موضوعية: Adult, Male, 030213 general clinical medicine, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis I, Clinical Biochemistry, Lysosomal storage disorders, Disease, 030204 cardiovascular system & hematology, Molecular heterogeneity, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Medicine, Humans, Child, Glycoproteins, Gaucher Disease, business.industry, Glycogen Storage Disease Type II, Genetic variants, Infant, Newborn, Infant, General Medicine, Middle Aged, medicine.disease, Fabry disease, Large cohort, Child, Preschool, Cohort, Mutation, Carrier status, Fabry Disease, Female, business, Lysosomes, Biomarkers
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5
المؤلفون: Divya C Thomas, Devendra Sutar, Jeetendra R Bhandankar
المصدر: IJIREEICE. 5:17-20
مصطلحات موضوعية: Automated optical inspection, Printed circuit board, Computer science, business.industry, Computer vision, Artificial intelligence, business, Image (mathematics)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e04892c126192fc5fb2893537fca8fcd
https://doi.org/10.17148/ijireeice/ncaee.2017.04 -
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المؤلفون: Geetu Jhingan, Jyotsna Verma, Ratna Dua Puri, Divya C. Thomas, I. C. Verma
المصدر: Hypertension in Pregnancy. 35:548-558
مصطلحات موضوعية: Placental growth factor, Gynecology, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, Multivariate analysis, Screening test, biology, Obstetrics, business.industry, Obstetrics and Gynecology, Early pregnancy factor, Diagnostic accuracy, 030204 cardiovascular system & hematology, medicine.disease, Preeclampsia, 03 medical and health sciences, 0302 clinical medicine, Internal Medicine, medicine, biology.protein, Gestation, business, High risk pregnancy
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المؤلفون: Geetu Jhingan, Ishwar C. Verma, Jyotsna Verma, Sandeepika Sharma, Renu Saxena, Sunita Bijarnia, Ratna Dua Puri, Divya C. Thomas, Sudha Kohli
المصدر: Prenatal Diagnosis. 35:1137-1147
مصطلحات موضوعية: Fetus, medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, False Negative Reactions, nutritional and metabolic diseases, Obstetrics and Gynecology, Lysosomal storage disorders, Prenatal diagnosis, Abortion, medicine.disease, Metachromatic leukodystrophy, medicine.anatomical_structure, Endocrinology, Internal medicine, embryonic structures, medicine, Chorionic villi, business, reproductive and urinary physiology, Genetics (clinical)
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8
المؤلفون: Kees Schoonderwoerd, Ratna Dua Puri, Kwang-Jen Hsiao, Azad Singh, Divya C. Thomas, Ishwar C. Verma, Geetu Jhingan, Jyotsna Verma, Sandeepika Sharma
المساهمون: Clinical Genetics
المصدر: Clinica Chimica Acta, 447, 1-7. Elsevier
مصطلحات موضوعية: medicine.medical_specialty, Quality management, Quality Assurance, Health Care, media_common.quotation_subject, Clinical Biochemistry, Diagnostic system, Biochemistry, Laboratory testing, Metabolic Diseases, Limit of Detection, Proficiency testing, Humans, Medicine, Quality (business), Intensive care medicine, Genetic testing, media_common, medicine.diagnostic_test, Clinical Laboratory Techniques, business.industry, Biochemistry (medical), Infant, Newborn, Quality control, General Medicine, Biotechnology, Dried Blood Spot Testing, Lysosomes, business, Quality assurance
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9
المؤلفون: Jyotsna, Verma, Divya C, Thomas, Geetu, Jhingan, Ratna D, Puri, I C, Verma
المصدر: Hypertension in pregnancy. 35(4)
مصطلحات موضوعية: Adult, Pregnancy Trimester, First, Young Adult, Pre-Eclampsia, Pregnancy, Multivariate Analysis, Humans, Blood Pressure, Female, Risk Assessment, Sensitivity and Specificity, Retrospective Studies
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المؤلفون: David C. Kasper, Jyotsna Verma, Ishwar Chander Verma, Sunita Bijarnia-Mahay, Sandeepika Sharma, Ratna Dua Puri, Pramod K. Mistry, Divya C. Thomas
المصدر: JIMD Reports ISBN: 9783662541180
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mucopolysaccharidosis, Concordance, Genetic counseling, Consanguinity, 030105 genetics & heredity, Biology, medicine.disease, Article, Enzyme assay, Fucosidosis, Mannosidosis, 03 medical and health sciences, 030104 developmental biology, Internal medicine, Immunology, medicine, biology.protein, Neuronal ceroid lipofuscinosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0040f2c09faeafec1eb24925855e4f3f
https://doi.org/10.1007/8904_2016_548