Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? (Record no. 25309886)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01620 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517054356.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201509s 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/s13039-015-0178-8 |
| 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 | Ehret, Julia K |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150930 |
| 245 00 - TITLE STATEMENT | |
| Title | Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular cytogenetics |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 72 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremer, Kirsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Becker, Jessica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zimmermann, Johannes P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wohlleber, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasshoff, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossier, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonin, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mangold, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bevot, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schön, Stefanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heilmann-Heimbach, Stefanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dennert, Nicola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieu-Dramard, Michèle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacaze, Elodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plessis, Ghislaine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Broca, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jedraszak, Guillaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Röthlisberger, Benno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miny, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Filges, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dufke, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrieux, Joris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Jennifer A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zink, Alexander M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular cytogenetics |
| Related parts | vol. 8 |
| -- | p. 72 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13039-015-0178-8">https://doi.org/10.1186/s13039-015-0178-8</a> |
| Public note | Available from publisher's website |
No items available.