CNVs and clinical diagnosis (Record no. 77687)
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000 -LEADER | |
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fixed length control field | 02296ngm a2200337 a 4500 |
001 - CONTROL NUMBER | |
control field | HST2360_1_2 |
003 - CONTROL NUMBER IDENTIFIER | |
control field | UkLoHST |
006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS | |
fixed length control field | m c |
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
fixed length control field | cr|cna|||a|||| |
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
fixed length control field | vz|czazum |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 080121s2009 enk|||||||||||s|||v|eng d |
028 50 - PUBLISHER NUMBER | |
Publisher number | 2360 |
Source | Henry Stewart Talks |
035 ## - SYSTEM CONTROL NUMBER | |
System control number | (UkLoHST)1399 |
035 ## - SYSTEM CONTROL NUMBER | |
System control number | (UkLU-K)001155576 |
040 ## - CATALOGING SOURCE | |
Original cataloging agency | UkLU-K |
Language of cataloging | eng |
Transcribing agency | UkLU-K |
100 1# - MAIN ENTRY--PERSONAL NAME | |
Personal name | Levy, Brynn, |
Affiliation | (Columbia University Medical Center, USA) |
Relator code | spk |
245 10 - TITLE STATEMENT | |
Title | CNVs and clinical diagnosis |
Medium | [electronic resource] / |
Statement of responsibility, etc. | Brynn Levy. |
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
Place of publication, distribution, etc. | London : |
Name of publisher, distributor, etc. | Henry Stewart Talks, |
Date of publication, distribution, etc. | 2009. |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 1 online resource (1 streaming video file (44 min.) : |
Other physical details | color, sound). |
490 1# - SERIES STATEMENT | |
Series statement | Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease, |
International Standard Serial Number | 2056-452X |
500 ## - GENERAL NOTE | |
General note | Animated audio-visual presentation with synchonized narration. |
500 ## - GENERAL NOTE | |
General note | Title from title frames. |
505 0# - FORMATTED CONTENTS NOTE | |
Formatted contents note | Contents: 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 ## - RESTRICTIONS ON ACCESS NOTE | |
Terms governing access | Access restricted to subscribers. |
538 ## - SYSTEM DETAILS NOTE | |
System details note | Mode of access: World Wide Web. |
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name as entry element | Gene Dosage. |
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name as entry element | Genetic Variation. |
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
Uniform title | Henry Stewart talks. |
Name of part/section of a work | Biomedical & life sciences collection. |
-- | Copy number variation. |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://hstalks.com/bs/1399/">https://hstalks.com/bs/1399/</a> |
856 42 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://hstalks.com/bs/p/439/">https://hstalks.com/bs/p/439/</a> |
Materials specified | Series |
No items available.