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1
المؤلفون: H Joenje, Stander Jansen, Rachel A. Gibson, Charmaine Havenga, Neil V. Morgan, Eliane Gluckman, Alex J. Tipping, Thomas Pearson, Christopher G. Mathew, L P Kuyt, T. De Ravel
المساهمون: Clinical sciences, Medical Genetics, Faculty of Medicine and Pharmacy
المصدر: Proceedings of the National Academy of Sciences. 98:5734-5739
مصطلحات موضوعية: Male, Molecular Sequence Data, Population, Biology, Polymorphism, Single Nucleotide, South Africa, Fanconi Anemia/genetics, Fanconi anemia, medicine, Humans, Allele, education, DNA Primers, Genetics, education.field_of_study, Multidisciplinary, Base Sequence, Genetic heterogeneity, Haplotype, Biological Sciences, medicine.disease, Founder Effect, FANCA, Pedigree, Fanconi Anemia, Haplotypes, Microsatellite, Female, mutation, Genealogy and Heraldry, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc91f87f7602e427f46a8594ca5f4f37Test
https://doi.org/10.1073/pnas.091402398Test -
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المؤلفون: Gina Joubert, Stander Jansen, Thomas Pearson, David K Stones, Charmaine Havenga
المصدر: Cancer Genetics and Cytogenetics. 126:52-55
مصطلحات موضوعية: Genetics, Cancer Research, medicine.medical_specialty, Genetic disorder, Bone marrow failure, Cytogenetics, Diepoxybutane, Heterozygote advantage, Chromosome Fragility, Biology, medicine.disease, Molecular biology, Chromosome aberration, chemistry.chemical_compound, chemistry, Fanconi anemia, medicine, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8cd052846df7993bd4dc1df4d7b4df17Test
https://doi.org/10.1016/s0165-4608Test(00)00388-5 -
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المؤلفون: Stander Jansen, J. Nico P. de Villiers, Rochelle Thiart, Maritha J. Kotze, Magda Callis, Frederick J. Raal
المصدر: Molecular and Cellular Probes. 12:149-152
مصطلحات موضوعية: DNA Mutational Analysis, Familial hypercholesterolemia, Biology, medicine.disease_cause, Polymerase Chain Reaction, Hyperlipoproteinemia Type II, South Africa, Exon, Ethnicity, medicine, Humans, Point Mutation, Molecular Biology, Polymorphism, Single-Stranded Conformational, Apolipoproteins B, Sequence Deletion, Genetics, Mutation, Base Sequence, Point mutation, Exons, Cell Biology, medicine.disease, Molecular biology, Stop codon, Receptors, LDL, LDL receptor, Mutation testing, Heteroduplex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff88b3739b6b3609a31548346e884ecfTest
https://doi.org/10.1006/mcpr.1998.0164Test -
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المؤلفون: Amanda Krause, Thomy J. L. de Ravel, Neil V. Morgan, Christopher G. Mathew, Linda Wainwright, Hans Joenje, Stander Jansen, Martin Digweed, Marc Tischkowitz, Fahmida Essop, Janet Poole, Ilja Demuth, Cathryn M. Lewis
المساهمون: Clinical sciences, Medical Genetics
المصدر: Blood. 105(9)
مصطلحات موضوعية: FANCG Gene, Immunology, Population, Black People, Cell Cycle Proteins, Biology, Biochemistry, Fanconi anemia, FANCG, medicine, Humans, education, Fanconi Anemia Complementation Group G Protein, Africa South of the Sahara, Sequence Deletion, Genetics, Cell Cycle Proteins/genetics, education.field_of_study, Molecular Epidemiology, Base Sequence, Genetic heterogeneity, Incidence, Haplotype, African Continental Ancestry Group/genetics, Nuclear Proteins, Cell Biology, Hematology, medicine.disease, Africa South of the Sahara/epidemiology, Fanconi Anemia Complementation Group Proteins, Founder Effect, Nuclear Proteins/genetics, DNA-Binding Proteins, Fanconi Anemia, Fanconi Anemia/epidemiology, Haplotypes, Mutation (genetic algorithm), DNA-Binding Proteins/genetics, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af423f0d97fc57017404c43153e67643Test
https://pubmed.ncbi.nlm.nih.gov/15657175Test -
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المؤلفون: Salvatore Melchionda, Fré Arwert, Samia A. Temtamy, Juan J. Ortega, Douglas F. Easton, Irene Roberts, Jan C. Pronk, Stander Jansen, Christopher G. Mathew, Thomy J. L. de Ravel, Neil V. Morgan, Mario Wijker, Rachel A. Gibson, Anna Savoia, Charmaine Havenga, Hans Joenje, Andries Westerveld, Richard J. Cohn, D Ford
المصدر: Nature Genetics. 11:338-340
مصطلحات موضوعية: Genetics, Positional cloning, Genetic Linkage, Genetic heterogeneity, Genetic Complementation Test, Chromosomes, Human, Pair 20, Chromosome Mapping, Chromosome Fragility, Biology, medicine.disease, Molecular biology, Pedigree, Complementation, Consanguinity, Fanconi Anemia, Gene mapping, Fanconi anemia, Genetic linkage, medicine, Humans, Chromosome breakage, Chromosomes, Human, Pair 16
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5358c1197f69b3fc82b28c0d324e1ff5Test
https://doi.org/10.1038/ng1195-338Test -
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المؤلفون: Leopoldo Zelante, Sinoula Apostolou, Peter C. Verlander, Elna W. Moerland, Douglas F. Easton, Maria Savino, Alex J. Tipping, Gregory G. Lennon, Leonarda lanzano, Neil V. Morgan, Anne-Marie Cleton-Jansen, S.A. Whitmore, Larry L. Deaven, Tamar Erlich, David F. Callen, Sheila Hassock, Christopher G. Mathew, Arleen D. Auerbach, Orna Levran, Joanna Crawford, Anna Savoia, Norman A. Doggett, Maria D'Apolito, Robert K. Moyzis, Thomy J. L. de Ravel, Jan C. Pronk, Stander Jansen, Rachel A. Gibson, Sat Dev Batish, Carola Van Berkell, Elena Memeo, Grant R. Sutherland, Angelo Notarangeio, Maria Rosaria Piemontese, Cees J. Cornelisse
المصدر: Nature genetics. 14(3)
مصطلحات موضوعية: Heterozygote, Fanconi anemia, complementation group C, Positional cloning, Genetic Linkage, Molecular Sequence Data, Cell Cycle Proteins, Biology, Polymerase Chain Reaction, FANCF, Fanconi anemia, FANCG, Genetics, medicine, Humans, Tissue Distribution, Amino Acid Sequence, Cloning, Molecular, Polymorphism, Single-Stranded Conformational, Base Sequence, Fanconi Anemia Complementation Group C Protein, Chromosome Mapping, Nuclear Proteins, Proteins, Sequence Analysis, DNA, medicine.disease, Molecular biology, FANCA, Fanconi Anemia Complementation Group Proteins, FANCB, Complementation, DNA-Binding Proteins, Fanconi Anemia, Haplotypes, Mutation, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34be34c3e987319dd16130ddd1e53194Test
https://pubmed.ncbi.nlm.nih.gov/8896564Test -
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المؤلفون: Charmaine Havenga, Neil V. Morgan, Ian C. Pearson, Atieh Hajianpour, Judith C. W. Marsh, Laura H. Goldstein, Christopher G. Mathew, M. Murer-Orlando, Nicola Foot, Farkondeh Birjandi, Sheila P. Mohan, Thomas Pearson, Elena Samochatova, Rachel A. Gibson, Irene Roberts, Inderjeet Dokal, Juan C. Llerena, Richard J. Cohn, R. David Milner, Thomy J. L. de Ravel, Sarah E. Ball, Stander Jansen, Isabel M. Marques, Pushpa Vasudevan, I Kesterton
المساهمون: Faculty of Medicine and Pharmacy, Clinical sciences, Medical Genetics
مصطلحات موضوعية: Heterozygote, Cell Cycle Proteins, Biology, Polymerase Chain Reaction, law.invention, Fanconi anemia, law, Fanconi Anemia/genetics, Genetics, medicine, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, Fanconi Anemia Complementation Group C Protein, Homozygote, Bone marrow failure, Proteins, Nuclear Proteins, Single-strand conformation polymorphism, Heterozygote advantage, medicine.disease, Molecular biology, Fanconi Anemia Complementation Group Proteins, Complementation, DNA-Binding Proteins, Restriction site, Fanconi Anemia, Proteins/genetics, mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601451df0deb90420c7ce36a9618b13dTest
https://doi.org/10.1002Test/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co;2-f -
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المؤلفون: Stander Jansen, Richard J. Cohn, T. De Ravel, D Ford, Sarah E. Ball, Rachel A. Gibson, Anna Savoia, Charmaine Havenga, Irene Roberts, R. D. G. Milner
المساهمون: Faculty of Medicine and Pharmacy, Clinical sciences, Medical Genetics
مصطلحات موضوعية: Male, Fanconi anemia, complementation group C, Locus (genetics), Biology, Gene mapping, Fanconi anemia, Genetic linkage, Fanconi Anemia/genetics, hemic and lymphatic diseases, Genetics, medicine, Humans, Genetics (clinical), Chromosome Mapping, medicine.disease, Molecular biology, Pedigree, Complementation, Fanconi Anemia, Genetic marker, genetic markers, Female, Chromosome breakage, Polymorphism, Restriction Fragment Length, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c3ddfb6bb9114cafdca75095afd1a6Test
https://hdl.handle.net/20.500.14017/ff04abbf-f8b9-4c5e-88e7-3fa531c240e2Test