Mendelian CNV mutations (Record no. 77692)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02044ngm a2200385 a 4500 |
| 001 - CONTROL NUMBER | |
| control field | HST2155_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 | 2155 |
| Source | Henry Stewart Talks |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (UkLoHST)1402 |
| 035 ## - SYSTEM CONTROL NUMBER | |
| System control number | (UkLU-K)001155582 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | UkLU-K |
| Language of cataloging | eng |
| Transcribing agency | UkLU-K |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Vermeesch, Joris, |
| Affiliation | (Catholic University of Leuven, Belgium) |
| Relator code | spk |
| 245 10 - TITLE STATEMENT | |
| Title | Mendelian CNV mutations |
| Medium | [electronic resource] / |
| Statement of responsibility, etc. | Ir. Joris Vermeesch. |
| 246 3# - VARYING FORM OF TITLE | |
| Title proper/short title | Mendelian copy number variation mutations |
| 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 (33 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: Copy number variation has now been shown to be a major cause of human genetic variation -- It has been implicated as the main cause of mental retardation disorders -- The boundary between benign and malignant copy number variations is blurring -- This is because certain CNVs can be benign but cause genetic disorders dependent on copy number state, sex and genetic background -- We coin them "Mendelian CNVs" -- An overview of autosomal recessive, dominant, X-linked and imprinted CNVs -- Diagnostic and clinical consequences. |
| 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 Diseases, Inborn. |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Genetic Variation. |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Mental Retardation |
| General subdivision | etiology. |
| 650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Mutation |
| General subdivision | genetics. |
| 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/1402/">https://hstalks.com/bs/1402/</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.