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1دورية أكاديمية
المؤلفون: Rudrarup Bhattacharjee, Lachlan A. Jolly, Mark A. Corbett, Ing Chee Wee, Sushma R. Rao, Alison E. Gardner, Tarin Ritchie, Eline J. H. van Hugte, Ummi Ciptasari, Sandra Piltz, Jacqueline E. Noll, Nazzmer Nazri, Clare L. van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth Baynam, Lyndsey E. Collins-Praino, Marten F. Snel, Nael Nadif Kasri, Kim M. Hemsley, Paul Q. Thomas, Raman Kumar, Jozef Gecz
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson, Kim M. Hemsley
المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
مصطلحات موضوعية: Retina, Mucopolysaccharidosis type III, Central nervous system, Eye, Lysosomal, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Kim M. Hemsley, Helen Beard, Gareth G. Doherty, Siti Mubarokah, Nazzmer Nazri, Vito Ferro
المصدر: Molecular Genetics and Metabolism. 138:107145
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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المؤلفون: Paul J. Trim, Barbara King, Marten F. Snel, Andrew Shoubridge, Nazzmer Nazri, Meghan L. Douglass, John J. Hopwood, Stephen Duplock, Helen Beard, Kim M. Hemsley
المصدر: Journal of inherited metabolic diseaseREFERENCES. 44(3)
مصطلحات موضوعية: medicine.medical_specialty, Heterozygote, Hydrolases, Dopamine, Cerebellar Purkinje cell, Biology, medicine.disease_cause, Pathogenesis, Loss of heterozygosity, Mice, Risk Factors, Internal medicine, Genetics, medicine, Animals, Genetics (clinical), MCOLN1, Mutation, Behavior, Animal, Age Factors, Heterozygote advantage, Parkinson Disease, Disease Models, Animal, Endocrinology, alpha-Synuclein, Glucosylceramidase, Female, NPC1, Glucocerebrosidase
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المؤلفون: Robert J Casson, Nazzmer Nazri, Meghan L. Douglass, Daniel Neumann, Paul J. Trim, Marten F. Snel, Helen Beard, Glyn Chidlow, Kim M. Hemsley
المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, Hydrolases, Central nervous system, Endosomes, Mucopolysaccharidosis type III, Eye, lcsh:RC346-429, Retina, Pathology and Forensic Medicine, Lesion, Mice, Mucopolysaccharidosis III, Cellular and Molecular Neuroscience, Retinal Rod Photoreceptor Cells, medicine, Animals, Humans, Dementia, lcsh:Neurology. Diseases of the nervous system, Sanfilippo syndrome, business.industry, Research, Retinal Degeneration, Brain, Neurodegenerative Diseases, Genetic Therapy, medicine.disease, Disease Models, Animal, medicine.anatomical_structure, Asymptomatic Diseases, Retinal Cone Photoreceptor Cells, Heparitin Sulfate, Microglia, sense organs, Neurology (clinical), Lysosomal, medicine.symptom, Age of onset, Lysosomes, business
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المؤلفون: Beard, Helen, Chidlow, Glyn, Neumann, Daniel, Nazzmer Nazri, Douglass, Meghan, Trim, Paul J., Snel, Marten F., Casson, Robert J., Hemsley, Kim M.
مصطلحات موضوعية: sense organs
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e49a66906d7683c98de6622f93c2ce4
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