Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (Record no. 12173925)

MARC details
000 -LEADER
fixed length control field 02220 a2200781 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514045631.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200212s 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.39.10.722
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 Maldergem, L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20021213
245 00 - TITLE STATEMENT
Title Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Oct 2002
300 ## - PHYSICAL DESCRIPTION
Extent 722-33 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Comparative Study; 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 Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
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 GTP-Binding Protein gamma Subunits
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 Heterotrimeric GTP-Binding Proteins
General subdivision genetics
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 Hyperlipidemias
General subdivision genetics
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 Lipodystrophy
General subdivision congenital
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
General subdivision genetics
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Isoforms
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Magré, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khallouf, T E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gedde-Dahl, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Delépine, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Trygstad, O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Seemanova, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stephenson, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Albott, C S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonnici, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Panz, V R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Medina, J L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bogalho, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huet, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Savasta, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Verloes, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Robert, J J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Loret, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Kerdanet, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tubiana-Rufi, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mégarbané, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maassen, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Polak, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lacombe, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kahn, C R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Silveira, E L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Abronzo, F H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grigorescu, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lathrop, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Capeau, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name O'Rahilly, S
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 39
-- no. 10
-- p. 722-33
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmg.39.10.722">https://doi.org/10.1136/jmg.39.10.722</a>
Public note Available from publisher's website

No items available.