Male patients affected by mosaic PCDH19 mutations: five new cases. (Record no. 27330438)
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000 -LEADER | |
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fixed length control field | 01646 a2200553 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250517162403.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201804s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1364-6753 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1007/s10048-017-0517-5 |
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 | de Lange, I M |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20180424 |
245 00 - TITLE STATEMENT | |
Title | Male patients affected by mosaic PCDH19 mutations: five new cases. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Neurogenetics |
Date of publication, distribution, etc. | Jul 2017 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 147-153 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 | Cadherins |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Epilepsy |
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 | Genetic Predisposition to Disease |
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 | High-Throughput Nucleotide Sequencing |
General subdivision | methods |
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 | Intellectual Disability |
General subdivision | genetics |
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 | Protocadherins |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Seizures |
General subdivision | complications |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sex Factors |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rump, P |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Neuteboom, R F |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Augustijn, P B |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hodges, K |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kistemaker, A I |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Brouwer, O F |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mancini, G M S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Newman, H A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vos, Y J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Helbig, K L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Peeters-Scholte, C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kriek, M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Knoers, N V |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lindhout, D |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Koeleman, B P C |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | van Kempen, M J A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Brilstra, E H |
773 0# - HOST ITEM ENTRY | |
Title | Neurogenetics |
Related parts | vol. 18 |
-- | no. 3 |
-- | p. 147-153 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10048-017-0517-5">https://doi.org/10.1007/s10048-017-0517-5</a> |
Public note | Available from publisher's website |
No items available.