Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. (Record no. 23172756)

MARC details
000 -LEADER
fixed length control field 02473 a2200793 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516174210.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201405s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1552-4876
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.c.31378
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 Roscioli, T
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140528
245 00 - TITLE STATEMENT
Title Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part C, Seminars in medical genetics
Date of publication, distribution, etc. Nov 2013
300 ## - PHYSICAL DESCRIPTION
Extent 259-70 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 Acrocephalosyndactylia
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Australia
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniofacial Dysostosis
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniosynostoses
General subdivision classification
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element New Zealand
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nuclear Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Fibroblast Growth Factor, Type 1
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Fibroblast Growth Factor, Type 2
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Fibroblast Growth Factor, Type 3
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Twist-Related Protein 1
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elakis, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cox, T C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moon, D J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Venselaar, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Turner, A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Le, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hackett, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haan, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Colley, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mowat, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Worgan, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kirk, E P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sachdev, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thompson, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gabbett, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McGaughran, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gibson, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gattas, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Freckmann, M-L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dixon, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoefsloot, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Field, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hackett, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kamien, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Edwards, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Adès, L C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Collins, F A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilson, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Savarirayan, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tan, T Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amor, D J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McGillivray, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name White, S M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Glass, I A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name David, D J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Anderson, P J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gianoutsos, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Buckley, M F
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part C, Seminars in medical genetics
Related parts vol. 163C
-- no. 4
-- p. 259-70
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.c.31378">https://doi.org/10.1002/ajmg.c.31378</a>
Public note Available from publisher's website

No items available.