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1دورية أكاديمية
المؤلفون: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency, MADD, Glutaric aciduria type II, ETFDH, Riboflavin, South Africa, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M. Heckmann
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: whole exome sequencing, whole genome sequencing, Charcot-Marie-Tooth disease, hereditary spastic paraplegia, African, equity, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1239725/fullTest; https://doaj.org/toc/1664-2295Test
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3صورة
المؤلفون: Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M. Heckmann
مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, whole exome sequencing, whole genome sequencing, Charcot-Marie-Tooth disease, hereditary spastic paraplegia, African, equity, diversity and inclusion
الإتاحة: https://doi.org/10.3389/fneur.2023.1239725.s001Test
https://figshare.com/articles/figure/Image_1_The_mutational_profile_in_a_South_African_cohort_with_inherited_neuropathies_and_spastic_paraplegia_pdf/24046887Test -
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المؤلفون: Kireshnee Naidu, Louis Vlok, Jeannine M. Heckmann, Helen M Cross, Benoît Marin, Franclo Henning
المصدر: European Journal of Neurology. 28:81-89
مصطلحات موضوعية: Male, medicine.medical_specialty, Population, Disease, South Africa, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Motor Neuron Disease, Amyotrophic lateral sclerosis, Prospective cohort study, education, Incidence study, education.field_of_study, business.industry, Incidence, Incidence (epidemiology), Amyotrophic Lateral Sclerosis, medicine.disease, Confidence interval, Neurology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974639152c42c8b699f9116121993d71Test
https://doi.org/10.1111/ene.14499Test