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المؤلفون: Pooja S. Kulshreshtha, Uros Hladnik, Madhuri Maganthi, Himabindu Kodishala, G. N. Sanjeeva, Rohit Kumar R. Marol, Jayarama S. Kadandale, P. Raghupathy, Elisa Lorenzetto, Meenakshi Bhat
المصدر: The Indian Journal of Pediatrics. 84:815-821
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Short stature, Impaired glucose tolerance, Young Adult, 03 medical and health sciences, Informed consent, medicine, Humans, Child, Psychiatry, Genetic testing, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Anthropometry, medicine.disease, Obesity, Uniparental disomy, 030104 developmental biology, Neonatal hypotonia, Molecular Diagnostic Techniques, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Prader-Willi Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad984ac10f4042ab185379b31787300cTest
https://doi.org/10.1007/s12098-017-2386-1Test -
22
المؤلفون: Süleyman Serdar Koca, Sheela Nampoothiri, Meenakshi Bhat, Dhanya Yesodharan, Chandrababu Kk, Jules G. Leroy, Michael J. Friez, Sara Cathey, Mahesh Kappanayil, Andrea Superti-Furga, Nursel Elcioglu, Natasha Radhakrishnan, Mohandas Nair K, Richard M. Pauli, Vinod Krishnan, Sheila Unger, Jayesh Sheth, Francisca Coutinho, Sandra Alves
المصدر: Clinical dysmorphology. 28(1)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Mucolipidosis-IIIαβ, Consanguinity, Clawing of Fingers, GNPTG, Pathology and Forensic Medicine, Cohort Studies, Young Adult, Mucolipidoses, Hypertrophy of Forearm, Genotype, Medicine, Humans, Young adult, Child, Genetics (clinical), business.industry, Mucolipidosis, General Medicine, medicine.disease, Carpal Tunnel Syndrome, Doenças Genéticas, Lysosomal Storage Diseases, Genu Valgum, Phenotype, Rheumatoid arthritis, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Mucolipidosis IIIγ, Female, Anatomy, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c79709b2bef5c0bbb68f88e53dbdd9Test
https://pubmed.ncbi.nlm.nih.gov/30507725Test -
23دورية أكاديمية
المؤلفون: Lisa K. Ryan, Janice Rhodes, Meenakshi Bhat, Gill Diamond, Updated Information
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Prajnya Ranganath, A.S. Babu, Katta M. Girisha, Ratna Dua Puri, Shubha R. Phadke, J. Md Nurul Jain, Sheela Nampoothiri, Mohandas Nair, A.Q. Hasan, Kanishk Prasad, Kalpana Gowrishankar, Seema Kapoor, V.H. Sankar, Sumita Danda, Shagun Aggarwal, Kausik Mandal, Anusha Uttarilli, Ashwin Dalal, I. C. Verma, Meenakshi Bhat, Divya Matta
المصدر: Clinical Genetics. 90:496-508
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, nutritional and metabolic diseases, Hunter syndrome, medicine.disease, Frameshift mutation, 03 medical and health sciences, Mucopolysaccharidosis type I, 030104 developmental biology, 0302 clinical medicine, Mucopolysaccharidosis I, medicine, Missense mutation, Mucopolysaccharidosis type II, skin and connective tissue diseases, Hurler syndrome, business, Iduronidase, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::98967e019aeca5e01f3a4105dcb3507dTest
https://doi.org/10.1111/cge.12795Test -
25
المصدر: International Journal of Anatomy and Research. 4:2076-2079
مصطلحات موضوعية: Embryology, medicine.medical_specialty, Histology, business.industry, medicine, Goldenhar syndrome, Cell Biology, Anatomy, medicine.disease, business, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e144f5637d4666651ccdb2810555a552Test
https://doi.org/10.16965/ijar.2016.146Test -
26
المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6Test
https://doi.org/10.1016/j.ymgmr.2015.06.002Test -
27
المؤلفون: Meenakshi Bhat, Pradeep S, Siddram J. Patil
المصدر: Fetal Echocardiography
مصطلحات موضوعية: medicine.medical_specialty, Heart disease, business.industry, Internal medicine, medicine, Cardiology, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e29aaeb44aeb34a4efe61ef3bcbc9adTest
https://doi.org/10.5005/jp/books/13107_11Test -
28
المؤلفون: Shafalika Vijayal, Meenakshi Bhat
المصدر: 2017 International Conference on Next Generation Computing and Information Systems (ICNGCIS).
مصطلحات موضوعية: Cryptocurrency, Blockchain, Global business, Currency, Financial transaction, Secondary sector of the economy, Probabilistic analysis of algorithms, Business, Private sector, Computer security, computer.software_genre, computer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9879e72fc4c14538f348244d2e8f1925Test
https://doi.org/10.1109/icngcis.2017.37Test -
29
المؤلفون: Sankar V. Hariharan, Kalpana Gowrishankar, M. L. Kulkarni, Anju Shukla, Kavitha Mohanasundaram, Ashwin Dalal, Meenakshi Bhat, Sumita Danda, Anju Gupta, A. Radha Ramadevi, Shubha R. Phadke, Shagun Aggarwal, Katta M. Girisha, Prajnya Ranganath, Akhil Muralidhar Kulkarni, Gandham SriLakshmi Bhavani, Hitesh Shah, Neerja Gupta, Sunita Bijarnia-Mahay, Madhulika Kabra, Sankaralingam Rajeswari, Ratna Dua Puri, Sheela Nampoothiri
المصدر: American Journal of Medical Genetics Part A. 167:2481-2484
مصطلحات موضوعية: Adult, Cartilage, Articular, Male, Heterozygote, Adolescent, Gene Expression, India, Biology, CCN Intercellular Signaling Proteins, Text mining, Genetics, Humans, Atypical phenotype, Family, Genetics (clinical), business.industry, Homozygote, Exons, Introns, Phenotype, Amino Acid Substitution, Mutation, Female, Joint Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd88dbcc0bd3993164135243f7a5c78aTest
https://doi.org/10.1002/ajmg.a.37164Test -
30
المؤلفون: Meenakshi Bhat
المصدر: Journal of Biosciences. 40:217-220
مصطلحات موضوعية: medicine.medical_specialty, Modern medicine, Genetic Medicine, Genetic counseling, media_common.quotation_subject, Genetic Diseases, Inborn, Vernacular, Genetic Counseling, General Medicine, Social issues, General Biochemistry, Genetics and Molecular Biology, Developmental psychology, Religion, Perception, medicine, Humans, Medical genetics, General Agricultural and Biological Sciences, Psychology, media_common, Spoken language
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7956515897f31b8b4dc150d3a6cbeec8Test
https://doi.org/10.1007/s12038-015-9528-2Test