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1دورية أكاديمية
المؤلفون: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
مصطلحات موضوعية: Lysosomal storage disorders, smMIP probes, Dried blood spot, Diagnostic yield, Cost effective, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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المؤلفون: Uday A. Pai, Dhanasekhar Kesavelu, Abhay K. Shah, Arun K. Manglik, Arun Wadhwa, Bhaswati Acharya, Deepak Goyal, Lalit Bharadia, Lalit Verma, Nithya Franklyn, Raju C. Shah, Somashekara H. R., Subhashish Bhattacharyya
المصدر: International Journal of Contemporary Pediatrics. 9:987
مصطلحات موضوعية: General Engineering
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31507f25bab610ac18b157d070355a28Test
https://doi.org/10.18203/2349-3291.ijcp20222434Test -
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المؤلفون: Frenny Sheth, Raju C Shah, Ahmed Al-Rikabi, Krati Shah, Jayesh Sheth, Naznin Lubna, Stuti Tewari
المصدر: Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-5 (2017)
Molecular Cytogeneticsمصطلحات موضوعية: 0301 basic medicine, Proband, Microcephaly, medicine.medical_specialty, lcsh:QH426-470, Ring chromosome, Case Report, 030105 genetics & heredity, Biology, Biochemistry, IGF-1R gene, 03 medical and health sciences, Genetics, medicine, Hypertelorism, Molecular Biology, Genetics (clinical), Ring chromosome 15, Biochemistry (medical), Cytogenetics, Karyotype, medicine.disease, Molecular biology, Hypotonia, lcsh:Genetics, Duplication/deletion, Molecular Medicine, Array-comparative genomic hybridization (aCGH), medicine.symptom, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5b7a7b9dd2a04a415c8fe58a5be034Test
http://link.springer.com/article/10.1186/s13039-017-0339-zTest -
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المؤلفون: Sunil Trivedi, Akash Patel, Riddhi Bhavsar, Frenny Sheth, Raju C Shah, Jayesh Sheth
المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
BMC Pediatricsمصطلحات موضوعية: Male, PRF1, Genetic counseling, Mutation, Missense, Prenatal diagnosis, medicine.disease_cause, Lymphohistiocytosis, Hemophagocytic, 03 medical and health sciences, Exon, 0302 clinical medicine, Meningoencephalitis, Next generation sequencing, hemic and lymphatic diseases, 030225 pediatrics, Case report, Humans, Missense mutation, Medicine, Signaling Lymphocytic Activation Molecule Associated Protein, 030212 general & internal medicine, Gene, Fetus, Mutation, Hemophagocytic lymphohistiocytosis, Base Sequence, Perforin, business.industry, SH2D1A, lcsh:RJ1-570, Brain, Infant, lcsh:Pediatrics, medicine.disease, Magnetic Resonance Imaging, Pedigree, Carrier status, Hemophagocytic Lymphohistiocytosis, Pediatrics, Perinatology and Child Health, Immunology, business, HLH
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beeb78ef10aa48bcef6311ce5f5f004cTest
https://doi.org/10.1186/s12887-019-1444-4Test -
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المؤلفون: Ashwin Dalal, Ratna Dua Puri, Shubha R. Phadke, Seema Kapoor, Sheela Nampoothiri, Sumita Danda, Jayesh Sheth, Mehul Mistri, Frenny Sheth, Dhairya Pancholi, Mamta N. Muranjan, Katta M. Girisha, Chaitanya Datar, Radha Ramadevi, Riddhi Bhavsar, Seema S. Bhatwadekar, Manisha Goyal, Inusha Panigrahi, Anupriya Kaur, Raju C Shah, Anju Shukla, Ashish Bavdekar, Prajnya Ranganath
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Proband, Gaucher disease, 030105 genetics & heredity, Compound heterozygosity, medicine.disease_cause, Gene duplication, Missense mutation, Child, Genetics (clinical), Genetics, Sanger sequencing, Mutation, Exons, Child, Preschool, symbols, Glucosylceramidase, Female, Research Article, Glucocerebrosidase, GBA1 gene, Indian population, Adult, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, India, Glucocerebroside, White People, p.Leu483Pro most common mutation, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, lcsh:RC31-1245, Chitotriosidase, business.industry, Infant, Newborn, Infant, Sequence Analysis, DNA, β-Glucosidase, lcsh:Genetics, 030104 developmental biology, Amino Acid Substitution, novel mutations in GBA1 gene, Structural Homology, Protein, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a184f5e1367099d5d98706688b76918Test
https://doi.org/10.1186/s12881-019-0759-1Test -
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المؤلفون: Arpita Thakker, Sanjiv Mehta, Jayesh Sheth, Vivek Jain, Madhulika Kabra, Frenny Sheth, Sheela Nampoothiri, Raju C Shah, Dhairya Pancholi, Riddhi Bhavsar, Mehul Mistri, Mahesh Kamate, Neerja Gupta
المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-11 (2018)
BMC Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, Batten disease, India, Gene mutation, Aminopeptidases, lcsh:RC346-429, Frameshift mutation, PPT1, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Asian People, Neuronal Ceroid-Lipofuscinoses, Gene duplication, Humans, Medicine, Missense mutation, Genetic Testing, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Gene, lcsh:Neurology. Diseases of the nervous system, TPP1, Neuronal ceroid lipofuscinoses (NCL), Genetics, Sanger sequencing, Tripeptidyl-Peptidase 1, business.industry, Infant, Membrane Proteins, General Medicine, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, symbols, Female, Thiolester Hydrolases, Neurology (clinical), Serine Proteases, business, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ae9410f3e16be2bea18bae1d9bebf9Test
https://doi.org/10.1186/s12883-018-1206-1Test -
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المؤلفون: Raju C Shah, Manish Narang, Suparna Chaterjee, Sucheta Roy, Gandhali Bhat, Ganesh Kadhe, Mma Faridi, Amey Mane, Monjori Mitra, Nisha Bhattacharya, Harish Choudhury, Apurba Ghosh, Nitin Shah
المصدر: Human Vaccines & Immunotherapeutics
مصطلحات موضوعية: Male, Drug-Related Side Effects and Adverse Reactions, Varicella vaccine, LICENSED VACCINES/Research Papers, Immunology, India, Enzyme-Linked Immunosorbent Assay, immunogenicity, Antibodies, Viral, Vaccines, Attenuated, law.invention, Chickenpox Vaccine, Randomized controlled trial, law, Humans, Immunology and Allergy, Medicine, Chicken pox, Child, Pharmacology, live attenuated vaccine, Attenuated vaccine, biology, business.industry, Immunogenicity, Infant, Oka Strain, Virology, Healthy Volunteers, Tolerability, Immunization, Child, Preschool, Immunoglobulin G, biology.protein, Female, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c417d625c4afcf10225da7b78294f30bTest
https://doi.org/10.1080/21645515.2014.1004031Test -
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المؤلفون: Raju C Shah, Pratima R. Shah
المصدر: The Indian Journal of Pediatrics. 75:815-820
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Decision Making, Information technology, Developing country, Drug Resistance, Microbial, Resistance (psychoanalysis), Decision Support Systems, Clinical, Antimicrobial, Drug Utilization, Anti-Bacterial Agents, Prescriptions, Anti-Infective Agents, Nursing, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Health care, Humans, Medicine, Antimicrobial stewardship, Stewardship, Practice Patterns, Physicians', business, Intensive care medicine, Antibacterial agent
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b95ef3e071bd9e06b410f9d6ef21498Test
https://doi.org/10.1007/s12098-008-0153-zTest -
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المؤلفون: Raju C. Shah, Anuj R. Shah
المصدر: The Indian Journal of Pediatrics. 70:485-488
مصطلحات موضوعية: Pertussis Vaccine, Clinical Trials as Topic, Reactogenicity, Whooping Cough, business.industry, Cost-Benefit Analysis, Immunogenicity, Diphtheria-Tetanus-acellular Pertussis Vaccines, Vaccine efficacy, Virology, Pharmacotherapy, Immunity, Pediatrics, Perinatology and Child Health, Immunology, Humans, Medicine, Pertussis vaccine, Drug Therapy, Combination, business, Adverse effect, Diphtheria-Tetanus-Pertussis Vaccine, Immunization Schedule, Acellular pertussis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed6619714d8332e01f68e99a958b2e2Test
https://doi.org/10.1007/bf02723139Test -
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المؤلفون: Nidhish Nanavaty, Nrupesh Oza, Mehul Mistri, Raju C Shah, Ashish Bavdekar, Chaitanya Datar, Jayesh Sheth, Frenny Sheth, Chitra Ankleshwaria, Marie Jackson, Koumudi Godbole, Mahesh Kamate, Sanjeev Mehta
المصدر: JIMD Reports ISBN: 9783319034607
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, Leukodystrophy, Hepatosplenomegaly, Gangliosidosis, Sandhoff disease, Protein degradation, medicine.disease, Gastroenterology, Fabry disease, Article, Metachromatic leukodystrophy, Internal medicine, medicine, Neuronal ceroid lipofuscinosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a1ed6ce7a34f13a108ee56a44aeacc4Test
https://pubmed.ncbi.nlm.nih.gov/23852624Test