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