Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. (Record no. 27464440)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02308 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517170507.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201709s 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/s13073-017-0463-8 |
| 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 | Bostwick, Bret L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170901 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genome medicine |
| Date of publication, distribution, etc. | 08 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 73 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CDC2 Protein Kinase |
| General subdivision | genetics |
| 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 | Face |
| General subdivision | abnormalities |
| 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 | Heart Defects, Congenital |
| General subdivision | genetics |
| 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 | Infant |
| 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 |
| 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 | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McLean, Scott |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Posey, Jennifer E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Streff, Haley E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gripp, Karen W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blesson, Alyssa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Powell-Hamilton, Nina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tusi, Jessica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stevenson, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farrelly, Ellyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hudgins, Louanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Yaping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xia, Fan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Xia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Pengfei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walkiewicz, Magdalena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McGuire, Marianne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grange, Dorothy K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrews, Marisa V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hummel, Marybeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Madan-Khetarpal, Suneeta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Infante, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coban-Akdemir, Zeynep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miszalski-Jamka, Karol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jefferies, John L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenfeld, Jill A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Emrick, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nugent, Kimberly M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belmont, John W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Brendan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lalani, Seema R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genome medicine |
| Related parts | vol. 9 |
| -- | no. 1 |
| -- | p. 73 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13073-017-0463-8">https://doi.org/10.1186/s13073-017-0463-8</a> |
| Public note | Available from publisher's website |
No items available.