Phenotypic spectrum associated with CASK loss-of-function mutations. (Record no. 21191321)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02606 a2200865 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516055724.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201202s 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/jmedgenet-2011-100218 |
| 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 | Moog, Ute |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120210 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotypic spectrum associated with CASK loss-of-function mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Nov 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 741-51 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biomarkers |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | metabolism |
| 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 | 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 | Gene Dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Duplication |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 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 | Guanylate Kinases |
| 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 | In Situ Hybridization, Fluorescence |
| 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 | Intellectual Disability |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Karyotyping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuroimaging |
| 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 | Real-Time Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kutsche, Kerstin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kortüm, Fanny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chilian, Bettina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bierhals, Tatjana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Apeshiotis, Neophytos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balg, Stefanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chassaing, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coubes, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Das, Soma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Esch, Hilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasshoff, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heise, Marisol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jarvis, Joanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koehler, Udo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oehl-Jaschkowitz, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ortibus, Els |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pilz, Daniela T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prabhakar, Prab |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rappold, Gudrun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rau, Isabella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rettenberger, Günther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schlüter, Gregor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scott, Richard H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shoukier, Moonef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wohlleber, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zirn, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Uyanik, Gökhan |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 48 |
| -- | no. 11 |
| -- | p. 741-51 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2011-100218">https://doi.org/10.1136/jmedgenet-2011-100218</a> |
| Public note | Available from publisher's website |
No items available.