GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. (Record no. 26327158)

MARC details
000 -LEADER
fixed length control field 02798 a2200889 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517111816.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201705s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2016.06.025
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 Lodder, Elisabeth M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170502
245 00 - TITLE STATEMENT
Title GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 09 2016
300 ## - PHYSICAL DESCRIPTION
Extent 704-710 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Bradycardia
General subdivision genetics
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 Developmental Disabilities
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 GTP-Binding Protein beta Subunits
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gastroesophageal Reflux
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Deletion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heart Rate
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle Hypotonia
General subdivision genetics
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 Mutation, Missense
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 Retinal Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Seizures
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sinoatrial Node
General subdivision physiopathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zebrafish
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zebrafish Proteins
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Nittis, Pasquelena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koopman, Charlotte D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wiszniewski, Wojciech
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moura de Souza, Carolina Fischinger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lahrouchi, Najim
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guex, Nicolas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Napolioni, Valerio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tessadori, Federico
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beekman, Leander
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nannenberg, Eline A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boualla, Lamiae
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blom, Nico A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Graaff, Wim
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kamermans, Maarten
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cocciadiferro, Dario
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malerba, Natascia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mandriani, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Akdemir, Zeynep Hande Coban
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fish, Richard J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eldomery, Mohammad K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ratbi, Ilham
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilde, Arthur A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Boer, Teun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simonds, William F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neerman-Arbez, Marguerite
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sutton, V Reid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kok, Fernando
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lupski, James R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reymond, Alexandre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bezzina, Connie R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bakkers, Jeroen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Merla, Giuseppe
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 99
-- no. 3
-- p. 704-710
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2016.06.025">https://doi.org/10.1016/j.ajhg.2016.06.025</a>
Public note Available from publisher's website

No items available.