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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602bTest
https://doi.org/10.1016/j.nmd.2021.02.013Test -
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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 -
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المؤلفون: Gudrun Nürnberg, A. Jeannette M. Hoogeboom, Meenakshi Bhat, Irene M.J. Mathijssen, David W. Johnson, Peter Hammond, Melissa Lees, Andrew O.M. Wilkie, Stephen R.F. Twigg, Sarah L. Versnel, Jane A. Hurst, Dianne Gerrelli, Peter J. Scambler, Alexis A Robinson, Peter Nürnberg, Raoul C.M. Hennekam
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatric Genetics, Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics
المصدر: American journal of human genetics, 84(5), 698-705. Cell Press
American Journal of Human Genetics, 84(5), 698-705. Cell Pressمصطلحات موضوعية: Genetics, 0303 health sciences, Long philtrum, Locus (genetics), Bifid nasal tip, Biology, medicine.disease, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Report, medicine, Missense mutation, Homeobox, Genetics(clinical), Hypertelorism, medicine.symptom, Frontonasal dysplasia, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f9b345f32d1d1611f5b335b0a3061eTest
http://ora.ox.ac.uk/objects/uuid:10289cb0-df9a-4969-9608-b476067c14b8Test