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المؤلفون: Chaitanya Datar, Nutan Kamath, Mamta N. Muranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Anju Shukla, Shubha R. Phadke, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Prince Jacob
المصدر: American Journal of Medical Genetics Part A. 188:751-759
مصطلحات موضوعية: Sanger sequencing, Genetics, Extracellular Matrix Proteins, Genotype, Ossification, Cartilage Oligomeric Matrix Protein, Biology, medicine.disease, Phenotype, Achondroplasia, symbols.namesake, Pseudoachondroplasia, Exon, Dysplasia, Mutation, symbols, medicine, Humans, Matrilin Proteins, medicine.symptom, Genetics (clinical), Exome sequencing
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المؤلفون: Yatheesha Bl, Ali Kumble, Michelle C. do Rosario, Anupriya Kaur, Leslie Lewis, Rajagopal Kadavigere, Ratna Dua Puri, K Shreedhara Avabratha, Sunita Bijarnia Mahay, Girish Subramaniam, Suvasini Sharma, K C Rakshith, Siddaramappa J. Patil, Sheela Nampoothiri, Mahesh Kamate, Shrikiran A, Hitesh Shah, Rajesh Shetty, Katta M. Girisha, Nutan Kamath, Anju Shukla, Shruti Bajaj, Stephanie L. Bielas, Narayanaswami Suresh, Malavika Hebbar, Shivanand Pai, Mamta N. Muranjan, Parneet Kaur, Ramesh Bhat Y, Rathika D. Shenoy, Neethukrishna Kausthubham, Karthik Nair
المصدر: Clin Genet
مصطلحات موضوعية: Population, India, Nervous System Malformations, Article, DNA sequencing, Leukoencephalopathy, Consanguinity, Exome Sequencing, Genotype, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Genetic Testing, Medical diagnosis, education, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Chromosome Aberrations, education.field_of_study, medicine.diagnostic_test, business.industry, Microarray Analysis, medicine.disease, White Matter, Mutation, Cohort, business
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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: Prajnya Ranganath, Ashwin Dalal, Akash Ranjan, S Jamal Md Nurul Jain, Sunita Bijarnia-Mahay, Dipti Deshpande, Jayesh Sheth, Madhulika Kabra, Shagun Aggarwal, Katta M. Girisha, Asodu Sandeep Sarma, Kausik Mandal, Mehul Mistri, Mamta N. Muranjan, Preetha Tilak, Naresh B. Tayade, Ratna Dua Puri, Neerja Gupta, A Radha Rama Devi, Shailesh Kumar Gupta, Shubha R. Phadke, Chaitanya Datar
المصدر: Human mutationREFERENCES. 42(10)
مصطلحات موضوعية: medicine.medical_specialty, In silico, Biology, symbols.namesake, Pregnancy, Genetics, Lysosomal storage disease, medicine, Missense mutation, Humans, Child, Genetics (clinical), Sanger sequencing, Niemann-Pick Diseases, Molecular pathology, Exons, Niemann-Pick Disease, Type A, medicine.disease, HEK293 Cells, Sphingomyelin Phosphodiesterase, Mutation, symbols, Medical genetics, Female, Acid sphingomyelinase, Niemann–Pick disease, medicine.drug
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المؤلفون: S Sanju, P Parekh, Mamta N. Muranjan, Sunil Karande, Milind S. Tullu
المصدر: Journal of Postgraduate Medicine, Vol 65, Iss 3, Pp 171-176 (2019)
Journal of Postgraduate Medicineمصطلحات موضوعية: Male, Subarachnoid hemorrhage, Thalassemia, medicine.medical_treatment, lcsh:Medicine, 03 medical and health sciences, 0302 clinical medicine, Hematoma, Convulsion, medicine, Humans, magnetic resonance imaging, 030212 general & internal medicine, Critical illness polyneuropathy, Stroke, Grand Round Case, Mechanical ventilation, 0303 health sciences, child, medicine.diagnostic_test, 030306 microbiology, business.industry, beta-Thalassemia, Blood transfusion, lcsh:R, General Medicine, medicine.disease, stroke, Anesthesia, polyneuropathies, Nerve conduction study, quadriplegia, medicine.symptom, business, Intracranial Hemorrhages
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المؤلفون: Mamta N. Muranjan, Katta M. Girisha, Gandham SriLakshmi Bhavani, Kausthubham Neethukrishna, Anju Shukla, Gen Nishimura, Geert Mortier, Kerstin Kutsche, Leonie von Elsner
المصدر: Human mutation
مصطلحات موضوعية: Male, Proband, Carboxy-Lyases, Cell Survival, Leupeptins, Mutation, Missense, Apoptosis, Consanguinity, Biology, Osteochondrodysplasias, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Ethanolamine, Genetic Predisposition to Disease, Child, Inner mitochondrial membrane, Cells, Cultured, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, Caspase 7, 0303 health sciences, Spondyloepimetaphyseal dysplasia, Caspase 3, Homozygote, 030305 genetics & heredity, Infant, Newborn, Infant, Fibroblasts, Metaphyseal dysplasia, medicine.disease, Molecular biology, Mitochondria, Pedigree, Child, Preschool, Mutation, Female, Human medicine, Epiphyses, Chromosome 22, Phosphatidylserine decarboxylase
وصف الملف: pdf
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المؤلفون: Lakshmi Vasudevan, Umesh Kalane, Parag M Tamhankar, Katta M. Girisha, Mahesh Kamate, Shaik Mohammad Naushad, Mamta N. Muranjan, Pooja J. Dholakia, Sumita Danda, Sarfaraj Niazi, Vasundhara Tamhankar, Shekhar Patil, Pratima Kondurkar, Reena Gulati, Rita Christopher, Dhaval Solanki, Madhavi Vasikarla, Jayesh Sheth
المصدر: J Pediatr Genet
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Glutaric aciduria, Encephalopathy, Macrocephaly, Glutaric aciduria type 1, medicine.disease, Asymptomatic, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, medicine, Carnitine, medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), Glutaric Acidemia Type 1, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e65672b344894b2102c3c1e80ca4bc
https://europepmc.org/articles/PMC8416222/ -
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المؤلفون: Mamta N. Muranjan, Ratna Dua Puri, Gaucher Disease Task Force, Seema Kapoor, Pramod K. Mistry, Shubha R. Phadke, Priya S. Kishnani, Ashwin Dalal, Ishwar C. Verma, Neerja Gupta, Anupam Sachdeva
المصدر: Indian Pediatrics. 55:143-153
مصطلحات موضوعية: 0301 basic medicine, education.field_of_study, Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Population, Prenatal diagnosis, Enzyme replacement therapy, Disease, Natural history, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Health care, Medicine, Medical genetics, education, business
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المؤلفون: Mamta N. Muranjan, Sunil Karande
المصدر: Journal of Postgraduate Medicine, Vol 64, Iss 4, Pp 195-199 (2018)
Journal of Postgraduate Medicineمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, lcsh:R, India, lcsh:Medicine, General Medicine, Enzyme replacement therapy, 030105 genetics & heredity, Lysosomal Storage Diseases, 03 medical and health sciences, 0302 clinical medicine, Editorial, medicine, Humans, Enzyme Replacement Therapy, 030212 general & internal medicine, Intensive care medicine, business
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المؤلفون: Sunil Karande, S Gupta, M Grewal, Mamta N. Muranjan
المصدر: Journal of Postgraduate Medicine, Vol 64, Iss 3, Pp 164-169 (2018)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Deep vein, 030106 microbiology, lcsh:Medicine, Thrombophlebitis, Inferior vena cava, 03 medical and health sciences, 0302 clinical medicine, Pulmonary angiography, Medicine, pulmonary thromboembolism, 030212 general & internal medicine, septic arthritis, business.industry, lcsh:R, osteomyelitis, methicillin resistant Staphylococcus aureus, General Medicine, medicine.disease, Thrombosis, Pulmonary embolism, Surgery, Venous thrombosis, medicine.anatomical_structure, medicine.vein, Deep venous thrombosis, business, Lower limbs venous ultrasonography