International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. (Record no. 27145541)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02195 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517152727.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2017.04.003 |
| 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 | Boycott, Kym M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170727 |
| 245 00 - TITLE STATEMENT | |
| Title | International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 695-705 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Databases, Factual |
| 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 | Genome, Human |
| 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 | International Cooperation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rare Diseases |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rath, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chong, Jessica X |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartley, Taila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alkuraya, Fowzan S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baynam, Gareth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brookes, Anthony J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brudno, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carracedo, Angel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | den Dunnen, Johan T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dyke, Stephanie O M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Estivill, Xavier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldblatt, Jack |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gonthier, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Groft, Stephen C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gut, Ivo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamosh, Ada |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hieter, Philip |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Höhn, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hurles, Matthew E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaufmann, Petra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knoppers, Bartha M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krischer, Jeffrey P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Macek, Milan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matthijs, Gert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olry, Annie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parker, Samantha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paschall, Justin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Philippakis, Anthony A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rehm, Heidi L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, Peter N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sham, Pak-Chung |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stefanov, Rumen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taruscio, Domenica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Unni, Divya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanstone, Megan R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Feng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bamshad, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lochmüller, Hanns |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 100 |
| -- | no. 5 |
| -- | p. 695-705 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2017.04.003">https://doi.org/10.1016/j.ajhg.2017.04.003</a> |
| Public note | Available from publisher's website |
No items available.