The Resource Mendelian CNV mutations, Ir. Joris Vermeesch, (electronic resource)

Mendelian CNV mutations, Ir. Joris Vermeesch, (electronic resource)

Label
Mendelian CNV mutations
Title
Mendelian CNV mutations
Statement of responsibility
Ir. Joris Vermeesch
Title variation
Mendelian copy number variation mutations
Creator
Speaker
Subject
Language
eng
Member of
Cataloging source
UkLU-K
Characteristic
representational
Series statement
Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,
Label
Mendelian CNV mutations, Ir. Joris Vermeesch, (electronic resource)
Publication
Note
  • Animated audio-visual presentation with synchonized narration
  • Title from title frames
http://library.link/vocab/branchCode
  • net
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
multicolored
Configuration of playback channels
monaural
Content category
two-dimensional moving image
Content type code
tdi
Content type MARC source
rdaconent
Contents
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
Control code
HST2155_1_2
Dimensions
unknown
Extent
1 online resource (1 streaming video file (33 min.)
File format
one file format
Governing access note
Access restricted to subscribers
Media category
  • video
  • computer
Media MARC source
  • rdamedia
  • rdamedia
Media type code
  • v
  • c
Medium for sound
other
Other physical details
color, sound)
Publisher number
2155
http://library.link/vocab/recordID
.b37230281
Sound
sound
Sound on medium or separate
sound on medium
Specific material designation
  • remote
  • other
System control number
  • HST215512
  • (UkLU-K)001155582
System details
  • Mode of access: World Wide Web
  • System requirements: Browser compatibility: updated Mozilla Firefox, Google Chrome, Safari or Internet Explorer 8+. Browser settings: enable JavaScript, enable cookies from the Henry Stewart Talks site. Required Desktop Browser plugins & viewers: Updated Adobe Flash Player & Adobe Acrobat Reader. Mobile device & operating system versions: Android v4.0+, iPhone 4+ (iOS v6.x+), iPad 2+ (iOS v6.x+), BlackBerry OS v7.0+, Windows Phone v6.5.1+
Video recording format
other

Library Locations

    • Deakin University Library - Geelong Waurn Ponds CampusBorrow it
      75 Pigdons Road, Waurn Ponds, Victoria, 3216, AU
      -38.195656 144.304955
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