CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes. (Record no. 25705522)

MARC details
000 -LEADER
fixed length control field 00968 a2200265 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517080202.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201602s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1755-8166
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/s13039-016-0219-y
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 Coci, Emanuele G
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160205
245 00 - TITLE STATEMENT
Title CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular cytogenetics
Date of publication, distribution, etc. 2016
300 ## - PHYSICAL DESCRIPTION
Extent 10 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koehler, Udo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liehr, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stelzner, Armin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fink, Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Langen, Hendrik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riedel, Joachim
773 0# - HOST ITEM ENTRY
Title Molecular cytogenetics
Related parts vol. 9
-- p. 10
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/s13039-016-0219-y">https://doi.org/10.1186/s13039-016-0219-y</a>
Public note Available from publisher's website

No items available.