Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. (Record no. 27957424)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02377 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517193800.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201811s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1756-994X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s13073-017-0510-5 |
| 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 | Knaus, Alexej |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20181102 |
| 245 00 - TITLE STATEMENT | |
| Title | Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genome medicine |
| Date of publication, distribution, etc. | 01 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 3 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 | Abnormalities, Multiple |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Automation |
| 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 | Flow Cytometry |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycosylphosphatidylinositols |
| General subdivision | biosynthesis |
| 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 | Image Processing, Computer-Assisted |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | metabolism |
| 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 | Phosphorus Metabolism Disorders |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pantel, Jean Tori |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pendziwiat, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hajjir, Nurulhuda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhao, Max |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hsieh, Tzung-Chien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schubach, Max |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gurovich, Yaron |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fleischer, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jäger, Marten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Köhler, Sebastian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muhle, Hiltrud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Korff, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bayat, Allan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calvas, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chassaing, Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Warren, Hannah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skinner, Steven |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Louie, Raymond |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Evers, Christina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bohn, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christen, Hans-Jürgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Born, Myrthe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Obersztyn, Ewa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charzewska, Agnieszka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Endziniene, Milda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kortüm, Fanny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, Natasha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, Peter N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schelhaas, Helenius J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weber, Yvonne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helbig, Ingo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mundlos, Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Horn, Denise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krawitz, Peter M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genome medicine |
| Related parts | vol. 10 |
| -- | no. 1 |
| -- | p. 3 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13073-017-0510-5">https://doi.org/10.1186/s13073-017-0510-5</a> |
| Public note | Available from publisher's website |
No items available.