000 | 02316 a2200721 4500 | ||
---|---|---|---|
005 | 20250518004851.0 | ||
264 | 0 | _c20200311 | |
008 | 202003s 0 0 eng d | ||
022 | _a1460-2083 | ||
024 | 7 |
_a10.1093/hmg/ddy381 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aReilly, Madeline Louise | |
245 | 0 | 0 |
_aLoss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. _h[electronic resource] |
260 |
_bHuman molecular genetics _c03 2019 |
||
300 |
_a778-795 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 |
_aCongenital Abnormalities _xgenetics |
650 | 0 | 4 |
_aCytokinesis _xgenetics |
650 | 0 | 4 | _aDisease Models, Animal |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFluorescent Antibody Technique |
650 | 0 | 4 | _aGenes, Lethal |
650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
650 | 0 | 4 | _aGenetic Loci |
650 | 0 | 4 | _aGenetic Predisposition to Disease |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aKidney _xabnormalities |
650 | 0 | 4 |
_aKidney Diseases _xcongenital |
650 | 0 | 4 |
_aKinesins _xchemistry |
650 | 0 | 4 | _aLoss of Function Mutation |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMicrocephaly _xgenetics |
650 | 0 | 4 |
_aOncogene Proteins _xchemistry |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aStructure-Activity Relationship |
650 | 0 | 4 | _aZebrafish |
700 | 1 | _aStokman, Marijn F | |
700 | 1 | _aMagry, Virginie | |
700 | 1 | _aJeanpierre, Cecile | |
700 | 1 | _aAlves, Marine | |
700 | 1 | _aPaydar, Mohammadjavad | |
700 | 1 | _aHellinga, Jacqueline | |
700 | 1 | _aDelous, Marion | |
700 | 1 | _aPouly, Daniel | |
700 | 1 | _aFailler, Marion | |
700 | 1 | _aMartinovic, Jelena | |
700 | 1 | _aLoeuillet, Laurence | |
700 | 1 | _aLeroy, Brigitte | |
700 | 1 | _aTantau, Julia | |
700 | 1 | _aRoume, Joelle | |
700 | 1 | _aGregory-Evans, Cheryl Y | |
700 | 1 | _aShan, Xianghong | |
700 | 1 | _aFilges, Isabel | |
700 | 1 | _aAllingham, John S | |
700 | 1 | _aKwok, Benjamin H | |
700 | 1 | _aSaunier, Sophie | |
700 | 1 | _aGiles, Rachel H | |
700 | 1 | _aBenmerah, Alexandre | |
773 | 0 |
_tHuman molecular genetics _gvol. 28 _gno. 5 _gp. 778-795 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddy381 _zAvailable from publisher's website |
999 |
_c29004691 _d29004691 |