Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. (Record no. 29004691)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02316 a2200721 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518004851.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddy381 |
| 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 | Reilly, Madeline Louise |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200311 |
| 245 00 - TITLE STATEMENT | |
| Title | Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | 03 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 778-795 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 | Animals |
| 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 | Cytokinesis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Models, Animal |
| 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 | Fluorescent Antibody Technique |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Lethal |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Loci |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Kinesins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Loss of Function Mutation |
| 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 | Microcephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oncogene Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 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 | Structure-Activity Relationship |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stokman, Marijn F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magry, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jeanpierre, Cecile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alves, Marine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paydar, Mohammadjavad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hellinga, Jacqueline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delous, Marion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pouly, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Failler, Marion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinovic, Jelena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loeuillet, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leroy, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tantau, Julia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roume, Joelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gregory-Evans, Cheryl Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shan, Xianghong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Filges, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allingham, John S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kwok, Benjamin H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saunier, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giles, Rachel H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benmerah, Alexandre |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 28 |
| -- | no. 5 |
| -- | p. 778-795 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddy381">https://doi.org/10.1093/hmg/ddy381</a> |
| Public note | Available from publisher's website |
No items available.