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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
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Kumeshnie Kollapen, FcRad Diag(SA), Farhana Ebrahim Suleman, FcRad Diag(SA), Izelle Smuts, BSc, MBChB, MMed, FC(Paed)SA, PhD, Lebohang Siwela, MBChB
المصدر: Radiology Case Reports, Vol 17, Iss 3, Pp 462-466 (2022)
مصطلحات موضوعية: Schistosomiasis, Spinal cord, MRI, Medical physics. Medical radiology. Nuclear medicine, R895-920
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sharika V. Raga, Jo Madeleine Wilmshurst, Izelle Smuts, Surita Meldau, Soraya Bardien, Maryke Schoonen, Francois Hendrikus van der Westhuizen
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: Africa, neuromuscular disease, paediatric, diagnosis, genomic medicine, South Africa, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: South African Journal of Science, Vol 115, Iss 3/4 (2019)
مصطلحات موضوعية: computational tools, african cohort, next-generation sequencing, rare disease, Science, Science (General), Q1-390, Social Sciences, Social sciences (General), H1-99
وصف الملف: electronic resource
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5
المؤلفون: Ismail Bhorat, Priya Soma-Pillay, E Nicolaou, Izelle Smuts, Lou Pistorius, Eckhart Buchmann
المصدر: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde. 111(3b)
مصطلحات موضوعية: medicine.medical_specialty, Cardiotocography, Fetal Hypoxia, Cerebral palsy, South Africa, Pregnancy, Prenatal Diagnosis, Medicine, Humans, Causation, Intensive care medicine, Modalities, business.industry, Neonatal encephalopathy, Cerebral Palsy, Infant, Newborn, Liability, Legal, General Medicine, Guideline, Hypoxia (medical), medicine.disease, Causality, Magnetic Resonance Imaging, Intrapartum Process, Hypoxia-Ischemia, Brain, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54dbeae5d5d1804ec1c81c17aa1d1ae
https://pubmed.ncbi.nlm.nih.gov/36214404 -
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المؤلفون: Richard J. Rodenburg, Lindi-Maryn Jonck, Roan Louw, Etresia van Dyk, Maryke Schoonen, Francois H. van der Westhuizen, Izelle Smuts, Joanna L. Elson
المصدر: Journal of Molecular Diagnostics, 21, 503-513
Journal of Molecular Diagnostics, 21, 3, pp. 503-513مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Population, DNA, Mitochondrial, DNA sequencing, Pathology and Forensic Medicine, Cohort Studies, Electron Transport, 03 medical and health sciences, 0302 clinical medicine, Ethnicity, medicine, Humans, SURF1, Child, education, Cell Nucleus, Genetics, education.field_of_study, business.industry, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Mitochondria, Nuclear DNA, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Cohort, Molecular Medicine, Female, business, Cohort study
وصف الملف: application/pdf
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المؤلفون: Roan Louw, Maryke Schoonen, Francois H. van der Westhuizen, Izelle Smuts, Kimmey-Li Wilsenach, Lindi-Maryn Jonck
المصدر: Molecular Genetics and Metabolism. 125:38-43
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mitochondrial disease, Reference range, Oxidative phosphorylation, Biochemistry, 03 medical and health sciences, Endocrinology, Internal medicine, Genetics, Medicine, Citrate synthase, Molecular Biology, chemistry.chemical_classification, biology, business.industry, food and beverages, medicine.disease, 030104 developmental biology, Enzyme, Mitochondrial respiratory chain, chemistry, Coenzyme Q – cytochrome c reductase, biology.protein, Coenzyme Q10 deficiency, business
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المؤلفون: Ronald J.A. Wanders, Michelle Mereis, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Francois H. van der Westhuizen
المصدر: The international journal of biochemistrycell biology. 132
مصطلحات موضوعية: 0301 basic medicine, Respiratory chain, Flavoprotein, Glutaric aciduria type II, Biology, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Multiple acyl-CoA dehydrogenase deficiency, Oxidoreductase, Animals, Humans, Riboflavin homeostasis, Multiple Acyl-CoA Dehydrogenase Deficiency, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Flavin adenine dinucleotide, Genetics, chemistry.chemical_classification, FAD, FAD transport, Cell Biology, ETF, Phenotype, 030104 developmental biology, chemistry, ETFDH, Riboflavin transport, 030220 oncology & carcinogenesis, Mutation, biology.protein, Flavin-Adenine Dinucleotide
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المساهمون: 20574495 - Schoonen, Maryke, 10213503 - Van der Westhuizen, Francois Hendrikus, 20126999 - Seyffert, Albertus Stefanus
المصدر: South African Journal of Science, Vol 115, Iss 3/4 (2019)
South African Journal of Science, Volume: 115, Issue: 3-4, Pages: 1-3, Published: APR 2019مصطلحات موضوعية: computational tools, Pipeline (computing), rare disease, Computational biology, Biology, General Biochemistry, Genetics and Molecular Biology, African cohort, lcsh:Social Sciences, lcsh:H, Next-generation sequencing, General Earth and Planetary Sciences, african cohort, next-generation sequencing, lcsh:Q, lcsh:H1-99, lcsh:Social sciences (General), General Agricultural and Biological Sciences, lcsh:Science, lcsh:Science (General), Rare disease, Computational tools, lcsh:Q1-390
وصف الملف: text/html
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10
المؤلفون: Roan, Louw, Izelle, Smuts, Kimmey-Li, Wilsenach, Lindi-Maryn, Jonck, Maryke, Schoonen, Francois H, van der Westhuizen
المصدر: Molecular genetics and metabolism. 125(1-2)
مصطلحات موضوعية: Adult, Male, Mitochondrial Diseases, Muscle Weakness, Ubiquinone, Middle Aged, Mitochondria, Electron Transport, Gene Expression Regulation, Humans, Ataxia, Female, Energy Metabolism, Muscle, Skeletal, Cells, Cultured, Retrospective Studies