Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. (Record no. 21999122)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02248 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516104257.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201210s 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.2012.06.016 |
| 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 | Heinzen, Erin L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20121022 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Aug 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 293-302 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy, Generalized |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome-Wide Association Study |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | White People |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Depondt, Chantal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cavalleri, Gianpiero L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruzzo, Elizabeth K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walley, Nicole M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Need, Anna C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ge, Dongliang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | He, Min |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cirulli, Elizabeth T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhao, Qian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cronin, Kenneth D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gumbs, Curtis E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campbell, C Ryan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hong, Linda K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maia, Jessica M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shianna, Kevin V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McCormack, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Radtke, Rodney A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'Conner, Gerard D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mikati, Mohamad A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gallentine, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Husain, Aatif M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sinha, Saurabh R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chinthapalli, Krishna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puranam, Ram S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McNamara, James O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ottman, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sisodiya, Sanjay M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delanty, Norman |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldstein, David B |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 91 |
| -- | no. 2 |
| -- | p. 293-302 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2012.06.016">https://doi.org/10.1016/j.ajhg.2012.06.016</a> |
| Public note | Available from publisher's website |
No items available.