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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: C. J. van Asperen, A. S. P. M. Breed, J. O. Van Hemel, K. Madan, A. J. H. Hamers, L. P. Kuyt, J. M. de Pater, Dominique Smeets, T. W. J. Hustinx, M.H.E.C. Pieters, K. B. J. Gerssen-Schoorl
المصدر: HUMAN GENETICS, 85(1), 15-20. SPRINGER
مصطلحات موضوعية: Chromosome Aberrations, Male, Genetics, Chromosomes, Human, Pair 11, Genetic Carrier Screening, Chromosome Disorders, Biology, Pedigree, Abortion, Spontaneous, Pays bas, Inversion (linguistics), Phenotype, Sex Factors, Pregnancy, Prenatal Diagnosis, Chromosome Inversion, Humans, Female, Single mutation, Genetics (clinical), Netherlands, Chromosomal inversion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754d0c3c0ac48a53e079cba8d26b725dTest
https://doi.org/10.1007/bf00276319Test -
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المؤلفون: M. L. Kwee, L. P. Kuyt
المصدر: Fanconi Anemia ISBN: 9783642741814
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Disease, medicine.disease, Malignancy, Pancytopenia, Fanconi anemia, hemic and lymphatic diseases, medicine, Epidermolysis bullosa, Aplastic anemia, Age of onset, business, Dyskeratosis congenita
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::86ff5a43bc199a9fbc8fe63ad6d2fc3aTest
https://doi.org/10.1007/978-3-642-74179-1_2Test