000 01796ngm a2200373 a 4500
001 HST2203_1_2
003 UkLoHST
006 m c
007 cr|cna|||a||||
007 vz|czazum
008 080121s2009 enk|||||||||||s|||v|eng d
028 5 0 _a2203
_bHenry Stewart Talks
035 _a(UkLoHST)1401
035 _a(UkLU-K)001155587
040 _aUkLU-K
_beng
_cUkLU-K
100 1 _aOsborne, Lucy R.,
_u(University of Toronto, Canada)
_4spk
245 1 0 _aWilliams-Beuren syndrome locus
_h[electronic resource] :
_ba model of CNV affecting gene dosage and phenotypes /
_cLucy R. Osborne.
260 _aLondon :
_bHenry Stewart Talks,
_c2009.
300 _a1 online resource (1 streaming video file (31 min.) :
_bcolor, sound).
490 1 _aCopy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,
_x2056-452X
500 _aAnimated audio-visual presentation with synchonized narration.
500 _aTitle from title frames.
505 0 _aContents: Clinical overview of WBS -- Genetic basis of WBS, including the role of elastin --Mechanisms of rearrangement at the WBS locus -- Occurrence and implications of inversions of the WBS region -- Duplication of the WBS region -- Comparison of gain and loss at the WBS locus -- Genotype-phenotype relationships in WBS.
506 _aAccess restricted to subscribers.
538 _aMode of access: World Wide Web.
650 2 _aGene Dosage.
650 2 _aGenetic Variation.
650 2 _aGenotype.
650 2 _aPhenotype.
650 2 _aWilliams Syndrome
_xgenetics.
830 0 _aHenry Stewart talks.
_pBiomedical & life sciences collection.
_pCopy number variation.
856 4 0 _uhttps://hstalks.com/bs/1401/
856 4 2 _uhttps://hstalks.com/bs/p/439/
_3Series
999 _c77697
_d77697