000 02121 a2200625 4500
005 20250517031350.0
264 0 _c20150729
008 201507s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2015.04.002
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMigliavacca, Eugenia
245 0 0 _aA Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cMay 2015
300 _a784-96 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aBrain
650 0 4 _aChild
650 0 4 _aChild Development Disorders, Pervasive
_xgenetics
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 16
_xgenetics
650 0 4 _aCiliary Body
_xmetabolism
650 0 4 _aDNA Copy Number Variations
_xgenetics
650 0 4 _aGene Expression Regulation
650 0 4 _aHumans
650 0 4 _aMice
650 0 4 _aPotassium Channels, Voltage-Gated
_xgenetics
650 0 4 _aSchizophrenia
_xgenetics
650 0 4 _aTranscriptome
650 0 4 _aZebrafish
650 0 4 _aZebrafish Proteins
_xgenetics
700 1 _aGolzio, Christelle
700 1 _aMännik, Katrin
700 1 _aBlumenthal, Ian
700 1 _aOh, Edwin C
700 1 _aHarewood, Louise
700 1 _aKosmicki, Jack A
700 1 _aLoviglio, Maria Nicla
700 1 _aGiannuzzi, Giuliana
700 1 _aHippolyte, Loyse
700 1 _aMaillard, Anne M
700 1 _aAlfaiz, Ali Abdullah
700 1 _avan Haelst, Mieke M
700 1 _aAndrieux, Joris
700 1 _aGusella, James F
700 1 _aDaly, Mark J
700 1 _aBeckmann, Jacques S
700 1 _aJacquemont, Sébastien
700 1 _aTalkowski, Michael E
700 1 _aKatsanis, Nicholas
700 1 _aReymond, Alexandre
773 0 _tAmerican journal of human genetics
_gvol. 96
_gno. 5
_gp. 784-96
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2015.04.002
_zAvailable from publisher's website
999 _c24864960
_d24864960