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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1331278/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/829aa2fc37e1447ea60602e3bd4756b6

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

URL الوصول: https://doaj.org/article/7ec379912cc04cc5a5d8f731fde59cfa

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

URL الوصول: https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418

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

URL الوصول: https://doaj.org/article/4ed44326b2f8437bbbf21b5e88f7f082

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8af079d4398e043c3f96d8180b389ec
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/244116

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd1b99a53740dec2cf91f7e16f80b82
http://europepmc.org/articles/PMC7434606

المؤلفون: Fahmida B. Essop, Tasha Wainstein, Amanda Krause, J. G. R. Kromberg, Candice Feben

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); 393-398

مصطلحات 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

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 2018

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee89337fbd7138770ed60cb76b2ec91a
https://www.ajol.info/index.php/sajs/article/view/178547

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