| 000 | 02296ngm a2200337 a 4500 | ||
|---|---|---|---|
| 001 | HST2360_1_2 | ||
| 003 | UkLoHST | ||
| 006 | m c | ||
| 007 | cr|cna|||a|||| | ||
| 007 | vz|czazum | ||
| 008 | 080121s2009 enk|||||||||||s|||v|eng d | ||
| 028 | 5 | 0 |
_a2360 _bHenry Stewart Talks |
| 035 | _a(UkLoHST)1399 | ||
| 035 | _a(UkLU-K)001155576 | ||
| 040 |
_aUkLU-K _beng _cUkLU-K |
||
| 100 | 1 |
_aLevy, Brynn, _u(Columbia University Medical Center, USA) _4spk |
|
| 245 | 1 | 0 |
_aCNVs and clinical diagnosis _h[electronic resource] / _cBrynn Levy. |
| 260 |
_aLondon : _bHenry Stewart Talks, _c2009. |
||
| 300 |
_a1 online resource (1 streaming video file (44 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: Genetic and chromosomal imbalance -- Survivable and "viable" chromosomal imbalance -- Clinical implications of chromosome abnormalities -- Chromosome analysis -- Diagnostic limits of conventional cytogenetic analysis -- How does banding resolution impact diagnostic ability? -- Molecular cytogenetics -- Fluorescence in situ hybridization (FISH) -- The clinical phenotype guides the choice of FISH test -- How do we determine the origin of marker chromosomes? -- Trisomy rescue -- Microarray analysis in clinical genetics -- Probe spacing and resolution -- Single nucleotide polymorphism oligonucleotide microarray analysis (SOMA) in clinical cytogenetics -- Partial aneuploidy -- Ring chromosome -- Gene composition of duplicated region -- Subtelomeric imbalances -- Gene composition of delete region -- FISH using Di George probe -- Neurofibromatosis -- Duchenne muscular dystrophy -- Rubinstein-Taybi syndrome -- Uniparental disomy -- Benefits of microarray analysis. | |
| 506 | _aAccess restricted to subscribers. | ||
| 538 | _aMode of access: World Wide Web. | ||
| 650 | 2 | _aGene Dosage. | |
| 650 | 2 | _aGenetic Variation. | |
| 830 | 0 |
_aHenry Stewart talks. _pBiomedical & life sciences collection. _pCopy number variation. |
|
| 856 | 4 | 0 | _uhttps://hstalks.com/bs/1399/ |
| 856 | 4 | 2 |
_uhttps://hstalks.com/bs/p/439/ _3Series |
| 999 |
_c77687 _d77687 |
||