Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. (Record no. 22410933)

MARC details
000 -LEADER
fixed length control field 02665 a2200877 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516131037.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201307s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1932-6203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1371/journal.pone.0051622
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 Perrault, Isabelle
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130701
245 00 - TITLE STATEMENT
Title Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. PloS one
Date of publication, distribution, etc. 2013
300 ## - PHYSICAL DESCRIPTION
Extent e51622 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; 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 Canada
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 China
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 Europe
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye Proteins
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 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 Leber Congenital Amaurosis
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Linkage Disequilibrium
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 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 Polymorphism, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retina
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retinal Degeneration
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element United States
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Estrada-Cuzcano, Alejandro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lopez, Irma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohl, Susanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Shiqiang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Testa, Francesco
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zekveld-Vroon, Renate
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Xia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pomares, Esther
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Andorf, Jean
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aboussair, Nisrine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Banfi, Sandro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Delphin, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name den Hollander, Anneke I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Edelson, Catherine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Florijn, Ralph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jean-Pierre, Marc
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leowski, Corinne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Megarbane, Andre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Villanueva, Cristina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Flores, Blanca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Munnich, Arnold
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ren, Huanan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zobor, Ditta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bergen, Arthur
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Rui
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cremers, Frans P M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gonzalez-Duarte, Roser
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koenekoop, Robert K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simonelli, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stone, Edwin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wissinger, Bernd
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Qingjiong
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kaplan, Josseline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rozet, Jean-Michel
773 0# - HOST ITEM ENTRY
Title PloS one
Related parts vol. 8
-- no. 1
-- p. e51622
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1371/journal.pone.0051622">https://doi.org/10.1371/journal.pone.0051622</a>
Public note Available from publisher's website

No items available.