Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (Record no. 27751194)
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|---|---|
| fixed length control field | 03307 a2201069 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517183343.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201711s 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.2017.09.018 |
| 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 | Sanna-Cherchi, Simone |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171113 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Nov 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 789-802 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Case-Control Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Clustered Regularly Interspaced Short Palindromic Repeats |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Abnormalities |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Heterogeneity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome-Wide Association Study |
| General subdivision | methods |
| 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 | Heredity |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Kidney |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Diseases |
| General subdivision | congenital |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neoplasm Proteins |
| General subdivision | genetics |
| 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 | RNA, Long Noncoding |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Urinary Tract |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Urogenital Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Kamal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Westland, Rik |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krithivasan, Priya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fievet, Lorraine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rasouly, Hila Milo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ionita-Laza, Iuliana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Capone, Valentina P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fasel, David A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kiryluk, Krzysztof |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kamalakaran, Sitharthan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bodria, Monica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Otto, Edgar A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sampson, Matthew G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gillies, Christopher E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vega-Warner, Virginia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vukojevic, Katarina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pediaditakis, Igor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Makar, Gabriel S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mitrotti, Adele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verbitsky, Miguel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martino, Jeremiah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liu, Qingxue |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Na, Young-Ji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goj, Vinicio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ardissino, Gianluigi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gigante, Maddalena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gesualdo, Loreto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janezcko, Magdalena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zaniew, Marcin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendelsohn, Cathy Lee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shril, Shirlee |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hildebrandt, Friedhelm |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Wijk, Joanna A E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arapovic, Adela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saraga, Marijan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allegri, Landino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Izzi, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scolari, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tasic, Velibor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ghiggeri, Gian Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Latos-Bielenska, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Materna-Kiryluk, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mane, Shrikant |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldstein, David B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lifton, Richard P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Davis, Erica E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gharavi, Ali G |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 101 |
| -- | no. 5 |
| -- | p. 789-802 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2017.09.018">https://doi.org/10.1016/j.ajhg.2017.09.018</a> |
| Public note | Available from publisher's website |
No items available.