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1دورية أكاديمية
المؤلفون: Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: Neurofibramotosis type 1, single nucleotide variant (SNV), copy number variants (CNV), next generating sequencing, MLPA (multiplex ligation-dependent probe amplification), Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Kaitlyn Flynn, Candice Feben, Lindiwe Lamola, Nadia Carstens, Amanda Krause, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium
المصدر: Clinical Case Reports, Vol 9, Iss 4, Pp 2144-2148 (2021)
مصطلحات موضوعية: CDC42, macrothrombocytopenia, Takenouchi–Kosaki syndrome, whole‐exome sequencing, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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3دورية أكاديمية
المؤلفون: Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje vanRij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
مصطلحات موضوعية: channelopathy, KCNMA1 loss‐of‐function, Liang‐Wang syndrome, thoracic aortic aneurysm, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4دورية أكاديمية
المؤلفون: Bronwyn Dillon, Candice Feben, David Segal, Johannes duPlessis, David Reynders, Rosalind Wainwright, Janet Poole, Amanda Krause
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
مصطلحات موضوعية: endocrine abnormalities, FANCG, founder mutation, short stature, thyroid function, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Robyn Kerr, Zané Lombard, Patracia Nevondwe, Careni Spencer, Amanda Krause, Candice Feben, Nadia Carstens, Maria Mabyalwa Mudau, Heather Seymour
مصطلحات موضوعية: Risk analysis (engineering), Computer science, Resource constrained, Diagnostic strategy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e3f062c4a90aa114f487457710b9dd7d
https://doi.org/10.21203/rs.3.rs-857929/v1 -
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المؤلفون: Maartje van Rij, Aline Verstraeten, Bart Loeys, Candice Feben, Maaike Alaerts, Marlies Kempers, Willy Hendson, Koenraad Devriendt, Josephina A.N. Meester, Luc De Catte, Mallory Woiski, Marcella Baldewijns, Jotte Rodrigues Bento
المصدر: Molecular Genetics & Genomic Medicine, 9
Molecular Genetics & Genomic Medicine, 9, 10
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)مصطلحات موضوعية: Male, Liang-Wang syndrome, Pathology, KCNMA1 loss‐of‐function, thoracic aortic aneurysm, QH426-470, KCNMA1 loss-of-function, Child, Large-Conductance Calcium-Activated Potassium Channel alpha Subunits, Genetics (clinical), Exome sequencing, Ultrasonography, 0303 health sciences, Clinical Report, 030305 genetics & heredity, 3. Good health, Phenotype, Gingival Hypertrophy, Child, Preschool, Speech delay, Mutation (genetic algorithm), Liang‐Wang syndrome, medicine.symptom, medicine.medical_specialty, Adolescent, Neuroimaging, Thoracic aortic aneurysm, Clinical Reports, Duodenal atresia, Young Adult, 03 medical and health sciences, channelopathy, Channelopathy, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Alleles, Genetic Association Studies, 030304 developmental biology, Fetus, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, medicine.disease, Amino Acid Substitution, Mutation, Channelopathies, Human medicine, Tomography, X-Ray Computed, business
وصف الملف: application/pdf; Print-Electronic
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7
المؤلفون: David Segal, Rosalind Wainwright, Johannes du Plessis, Janet Poole, David Reynders, Amanda Krause, Candice Feben, Bronwyn Dillon
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, Blood Glucose, Male, Physiology, FANCG, 030105 genetics & heredity, South Africa, Fanconi anemia, Insulin, Insulin-Like Growth Factor I, Child, Fanconi Anemia Complementation Group G Protein, Genetics (clinical), endocrine abnormalities, Thyroid, Homozygote, Founder Effect, medicine.anatomical_structure, Child, Preschool, Original Article, Female, Thyroid function, medicine.symptom, Endocrine gland, Thyroid Hormones, lcsh:QH426-470, Adolescent, Black People, Short stature, 03 medical and health sciences, Insulin resistance, Genetics, medicine, Endocrine system, Humans, Molecular Biology, business.industry, thyroid function, Puberty, Original Articles, medicine.disease, short stature, lcsh:Genetics, 030104 developmental biology, Fanconi Anemia, Insulin-Like Growth Factor Binding Protein 3, Mutation, founder mutation, business
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المصدر: South African Medical Journal, Vol 108, Iss 5, Pp 393-398 (2018)
SAMJ: South African Medical Journal, Volume: 108, Issue: 5, Pages: 393-398, Published: MAY 2018
South African Medical Journal; Vol 108, No 5 (2018); 393-398مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genetic counseling, lcsh:Medicine, 030105 genetics & heredity, Diagnostic modalities, South Africa, 03 medical and health sciences, Early Medical Intervention, Neoplasms, Epidemiology, Humans, Medicine, Genetic testing, lcsh:R5-920, medicine.diagnostic_test, business.industry, lcsh:R, Bone marrow failure, Genetic disorder, General Medicine, Prognosis, medicine.disease, Early Diagnosis, Fanconi Anemia, Chromosome breakage, business, lcsh:Medicine (General), Founder effect
وصف الملف: text/html; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2c4391f9800bd8d0b46c633c1b6507
http://www.samj.org.za/index.php/samj/article/download/12285/8471 -
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المؤلفون: J. G. R. Kromberg, Amanda Krause, Candice Feben, Andrew McDonald
المصدر: South African Journal of Surgery; Vol 56, No 3 (2018); 30-33
South African Journal of Surgery, Volume: 56, Issue: 3, Pages: 30-33, Published: SEP 2018مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Referral, business.industry, Genetic counseling, Hereditary disorders, 030105 genetics & heredity, medicine.disease, Timely diagnosis, 03 medical and health sciences, 0302 clinical medicine, Ehlers–Danlos syndrome, Intervention (counseling), medicine, Surgery, Young female, business, 030217 neurology & neurosurgery, Genetic testing
وصف الملف: application/pdf; text/html
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المؤلفون: Christopher Sutton, Candice Feben, C Jacobs, Tabitha Haw, David K Stones, Jennifer G.R. Kromberg, Amanda Krause
المصدر: South African Journal of Child Health, Volume: 11, Issue: 3, Pages: 141-145, Published: OCT 2017
South African Journal of Child Health; Vol 11, No 3 (2017); 141-145
South African Journal of Child Health, Vol 11, Iss 3, Pp 141-145 (2017)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Incidence (epidemiology), lcsh:R, Genetic disorder, lcsh:RJ1-570, lcsh:Medicine, Physical examination, lcsh:Pediatrics, medicine.disease, Compound heterozygosity, Phenotype, FANCA, Complementation, Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, medicine, business
وصف الملف: text/html; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99132ae3a62f4dcb7d084b85c5d1e4ed
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S1999-76712017000300008&lng=en&tlng=en