Lyon, Gholson,
Human genetic variation and the genotype-phenotype problem part 2 of 2 / [electronic resource] : Human genetic variation and the genotype-phenotype problem. Part 2 Gholson Lyon. - London : Henry Stewart Talks, 2015. - 1 online resource (1 streaming video file (20 min.) : color, sound). - The biomedical & life sciences collection, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. .
Animated audio-visual presentation with synchronized narration. Title from title frames.
Contents: The biology of mental defect -- Documentation of Down syndrome -- Variable expressivity of disease -- Mutations as "difference makers" -- The "map making" stage -- Mutation without disease in "disease genes" -- Overly simplistic view of "genes causing autism" -- Rare variants in rare and common diseases -- Mutations modulated by genetic background -- Clinical validity through "Networking of science".
Access restricted to subscribers.
Mode of access: World Wide Web.
4062 Henry Stewart Talks
Autism--Genetic aspects.
Down's syndrome.
Genetic disorders.
Human genetics--Variation.
Medical genetics.
Phenotype.
Variation (Biology)
Autistic Disorder--genetics.
Down Syndrome--genetics.
Genetic Variation.
Genetics, Medical.
Genotype.
Humans--genetics.
Mutation.
Phenotype.
Human genetic variation and the genotype-phenotype problem part 2 of 2 / [electronic resource] : Human genetic variation and the genotype-phenotype problem. Part 2 Gholson Lyon. - London : Henry Stewart Talks, 2015. - 1 online resource (1 streaming video file (20 min.) : color, sound). - The biomedical & life sciences collection, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. .
Animated audio-visual presentation with synchronized narration. Title from title frames.
Contents: The biology of mental defect -- Documentation of Down syndrome -- Variable expressivity of disease -- Mutations as "difference makers" -- The "map making" stage -- Mutation without disease in "disease genes" -- Overly simplistic view of "genes causing autism" -- Rare variants in rare and common diseases -- Mutations modulated by genetic background -- Clinical validity through "Networking of science".
Access restricted to subscribers.
Mode of access: World Wide Web.
4062 Henry Stewart Talks
Autism--Genetic aspects.
Down's syndrome.
Genetic disorders.
Human genetics--Variation.
Medical genetics.
Phenotype.
Variation (Biology)
Autistic Disorder--genetics.
Down Syndrome--genetics.
Genetic Variation.
Genetics, Medical.
Genotype.
Humans--genetics.
Mutation.
Phenotype.