A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. (Record no. 27864573)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02995 a2200901 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517190849.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201902s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/gim.2017.214 |
| 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 | Lee, Eric |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190201 |
| 245 00 - TITLE STATEMENT | |
| Title | A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 09 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1061-1068 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 | Australia |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Basic Helix-Loop-Helix Transcription Factors |
| General subdivision | genetics |
| 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 | Cranial Sutures |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniosynostoses |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA-Binding Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ephrin-B1 |
| General subdivision | genetics |
| 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 | Fibroblast Growth Factor 10 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| General subdivision | methods |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | New Zealand |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, Fibroblast Growth Factor, Type 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Repressor Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Twist-Related Protein 1 |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le, Trang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhu, Ying |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elakis, George |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turner, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lo, William |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venselaar, Hanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verrenkamp, Carol-Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Snow, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mowat, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kirk, Edwin Philip |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sachdev, Rani |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Janine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, Natasha Jane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wallis, Mathew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barnett, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKenzie, Fiona |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freckmann, Mary-Louise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collins, Felicity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chopra, Maya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregersen, Nerine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayes, Ian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rajagopalan, Sulekha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Tiong Yang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stark, Zornitza |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Savarirayan, Ravi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yeung, Alison |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adès, Lesley |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gattas, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gibson, Kate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gabbett, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amor, David John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lattanzi, Wanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boyd, Simeon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haan, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gianoutsos, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cox, Timothy Chilton |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buckley, Michael Francis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roscioli, Tony |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 20 |
| -- | no. 9 |
| -- | p. 1061-1068 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2017.214">https://doi.org/10.1038/gim.2017.214</a> |
| Public note | Available from publisher's website |
No items available.