Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. (Record no. 18803887)

MARC details
000 -LEADER
fixed length control field 02946 a2201069 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515165419.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200911s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmg.2008.063412
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name van Bon, B W M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20091102
245 00 - TITLE STATEMENT
Title Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Aug 2009
300 ## - PHYSICAL DESCRIPTION
Extent 511-23 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Aberrations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Disorders
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 15
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Duplication
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oligonucleotide Array Sequence Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pregnancy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mefford, H C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Menten, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koolen, D A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sharp, A J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nillesen, W M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Innis, J W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Ravel, T J L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mercer, C L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fichera, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stewart, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Connell, L E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ounap, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lachlan, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Castle, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van der Aa, N
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Personal name van Ravenswaaij, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nobrega, M A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Serra-Juhé, C
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Personal name Simonic, I
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Personal name de Leeuw, N
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Personal name Pfundt, R
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Personal name Bongers, E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baker, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Finnemore, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huang, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maloney, V K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crolla, J A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Kalmthout, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elia, M
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Personal name Vandeweyer, G
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Personal name Fryns, J P
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Personal name Janssens, S
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Personal name Foulds, N
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Personal name Reitano, S
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Personal name Smith, K
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Personal name Parkel, S
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Personal name Loeys, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Woods, C G
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Personal name Oostra, A
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Personal name Speleman, F
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Personal name Pereira, A C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kurg, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Willatt, L
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Personal name Knight, S J L
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Personal name Vermeesch, J R
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Personal name Romano, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barber, J C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mortier, G
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Personal name Pérez-Jurado, L A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kooy, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brunner, H G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eichler, E E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kleefstra, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, B B A
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 46
-- no. 8
-- p. 511-23
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmg.2008.063412">https://doi.org/10.1136/jmg.2008.063412</a>
Public note Available from publisher's website

No items available.