Clinical delineation of the PACS1-related syndrome--Report on 19 patients. (Record no. 25699894)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02745 a2200865 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517080015.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201612s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.37476 |
| 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 | Schuurs-Hoeijmakers, Janneke H M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20161213 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical delineation of the PACS1-related syndrome--Report on 19 patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Mar 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 670-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 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 | Anticonvulsants |
| General subdivision | therapeutic use |
| 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 | Facies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Failure to Thrive |
| General subdivision | diagnosis |
| 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 Expression |
| 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 | diagnosis |
| 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 | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 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 | Vesicular Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Landsverk, Megan L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Foulds, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kukolich, Mary K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gavrilova, Ralitza H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Greville-Heygate, Stephanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanson-Kahn, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernstein, Jonathan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Glass, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chitayat, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burrow, Thomas A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Husami, Ammar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collins, Kathleen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wusik, Katie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Aa, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kooy, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, Kate Tatton |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gadzicki, Dorothea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kini, Usha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alvarez, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernández-Jaén, Alberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McGehee, Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selby, Katherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarailo-Graovac, Maja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Van Allen, Margot |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Karnebeek, Clara D M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stavropoulos, Dimitri J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marshall, Christian R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merico, Daniele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregor, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweier, Christiane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hopkin, Robert J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chu, Yoyo Wing-Yiu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chung, Brian Hon-Yin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Bert B A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devriendt, Koenraad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hurles, Matthew E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 170 |
| -- | no. 3 |
| -- | p. 670-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.37476">https://doi.org/10.1002/ajmg.a.37476</a> |
| Public note | Available from publisher's website |
No items available.