DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. (Record no. 15209985)

MARC details
000 -LEADER
fixed length control field 01400 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514210124.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200511s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0009-9163
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1399-0004.2004.00350.x
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 Ciara, E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20051114
245 00 - TITLE STATEMENT
Title DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Dec 2004
300 ## - PHYSICAL DESCRIPTION
Extent 517-24 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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
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 Male
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 Oxidoreductases Acting on CH-CH Group Donors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Poland
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Smith-Lemli-Opitz Syndrome
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nowaczyk, M J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Witsch-Baumgartner, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malunowicz, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Popowska, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jezela-Stanek, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Piotrowicz, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Waye, J S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Utermann, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krajewska-Walasek, M
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 66
-- no. 6
-- p. 517-24
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2004.00350.x">https://doi.org/10.1111/j.1399-0004.2004.00350.x</a>
Public note Available from publisher's website

No items available.