Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. (Record no. 29190307)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01854 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518014144.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202006s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1943-7811 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.jmoldx.2018.07.008 |
| 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 | Baker, Samuel W |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200618 |
| 245 00 - TITLE STATEMENT | |
| Title | Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of molecular diagnostics : JMD |
| Date of publication, distribution, etc. | 01 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 38-48 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 | DNA |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 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 | Genetic Testing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 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 | Exome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murrell, Jill R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nesbitt, Addie I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pechter, Kieran B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balciuniene, Jorune |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhao, Xiaonan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yu, Zhenming |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Denenberg, Elizabeth H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | DeChene, Elizabeth T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilkens, Alisha B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bhoj, Elizabeth J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guan, Qiaoning |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dulik, Matthew C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conlin, Laura K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abou Tayoun, Ahmad N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Luo, Minjie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, Chao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cao, Kajia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarmady, Mahdi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bedoukian, Emma C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tarpinian, Jennifer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Medne, Livija |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skraban, Cara M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deardorff, Matthew A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krantz, Ian D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krock, Bryan L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santani, Avni B |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of molecular diagnostics : JMD |
| Related parts | vol. 21 |
| -- | no. 1 |
| -- | p. 38-48 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.jmoldx.2018.07.008">https://doi.org/10.1016/j.jmoldx.2018.07.008</a> |
| Public note | Available from publisher's website |
No items available.