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Medical > Human genome

dysgenesis

Medical; Human genome

Refers to any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.

enzyme assay

Medical; Human genome

Measurement of enzyme activity with a particular substrate; can be assessed in a variety of ways including quantification of the end product or colorimetric analysis.

DNA replication

Medical; Human genome

1) The process by which a DNA molecule is duplicated. 2) The use of existing DNA as a template for the synthesis of new DNA strands. In humans and other eukaryotes, replication ...

exon scanning

Medical; Human genome

The process by which certain exons (coding regions within a gene), under highest suspicion to contain a specific mutation, are subjected to testing via conformation sensitive gel ...

dysmetria

Medical; Human genome

Impaired ability to estimate distance in muscular action.

erythropoiesis

Medical; Human genome

The production of red blood cells as from the bone marrow.

cryptic chromosome translocation

Medical; Human genome

A chromosome translocation or rearrangement detected by special techniques (e.g., fluorescent in situ hybridization (FISH), telomeric detection) because it is too small to be seen ...