Génétique HumaineJean de Grouchy, Francis John Govier Ebling, I. W. Henderson Excerpta Medica, 1972 - 499 Seiten |
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Seite 10
... disease Diagnosis , counselling and treatment of genetic disease in man , and of hereditary metabolic disease in particular , is an important component of the practical medical sciences today . Dr. McKusick asked me to speak at the 3rd ...
... disease Diagnosis , counselling and treatment of genetic disease in man , and of hereditary metabolic disease in particular , is an important component of the practical medical sciences today . Dr. McKusick asked me to speak at the 3rd ...
Seite 11
... disease was ' genetic ' if it was listed in McKusick's catalogue ( McKusick , 1968 ) and it was a ' congenital malformation ' if it was listed in the NIH catalogue of Hay and Tonascia ( 1968 ) . The results are summarized in Figure 1 ...
... disease was ' genetic ' if it was listed in McKusick's catalogue ( McKusick , 1968 ) and it was a ' congenital malformation ' if it was listed in the NIH catalogue of Hay and Tonascia ( 1968 ) . The results are summarized in Figure 1 ...
Seite 16
... disease . The costs of untreatable disease , e.g. Tay- Sachs disease , have been modified by prenatal diagnosis ( option A ) . Treatable disease , e.g. phenyl- ketonuria , can be modified by newborn screening and early treatment ...
... disease . The costs of untreatable disease , e.g. Tay- Sachs disease , have been modified by prenatal diagnosis ( option A ) . Treatable disease , e.g. phenyl- ketonuria , can be modified by newborn screening and early treatment ...
Inhalt
Clinical geneticsGénétique clinique | 25 |
Radiation geneticsRadiations ionisantes | 38 |
Données récentes sur les taux de mutations radioinduites chez | 67 |
Urheberrecht | |
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abnormal Acad acid activity alleles analysis aneuploid anti anticoagulant anticorps antigen antipyrine autosomal biochemical bishydroxycoumarin blood cell hybrids cell lines chimerism clinical clones culture Cytogenetics deficiency dehydrogenase detected deux diagnosis dose drug metabolism effect electrophoretic enzyme assay estimate été être factors Fagerhol female fibroblasts fraction G6PD gamètes gène genetic genetic control génétique hereditary heterozygotes heterozygous hexosaminidase HL-A human chromosomes individuals inheritance isozymes karyotype Level linkage lipoprotein loci locus Lp(a Lp(a+ lymphocytes lymphoid cell male marker meiosis meiotic mental retardation mouse mutation Nature Lond Negro normal observed pairs parents patients patterns peut pharmacogenetics phenotype phenylbutazone plasma polymorphism population possible Proc produit propositus protein prothrombin Pygmies rearrangement recombination red cells sera serum sibship singletons somatic cell structure studies syndrome Table Tay-Sachs disease tests tion tissues translocations twins variants Vesell vitamin vitamin K warfarin X chromosome XX/XY