| 000 | 02503 a2200709 4500 | ||
|---|---|---|---|
| 005 | 20250517003950.0 | ||
| 264 | 0 | _c20150126 | |
| 008 | 201501s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2014.10.006 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCarvalho, Claudia M B | |
| 245 | 0 | 0 |
_aDosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2014 |
||
| 300 |
_a565-78 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aAcyl-CoA Dehydrogenase, Long-Chain _xgenetics |
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aApoptosis Regulatory Proteins |
| 650 | 0 | 4 |
_aAsialoglycoprotein Receptor _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aChromosome Breakpoints |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xgenetics |
| 650 | 0 | 4 | _aDishevelled Proteins |
| 650 | 0 | 4 | _aFlow Cytometry |
| 650 | 0 | 4 |
_aGene Dosage _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunohistochemistry |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSmith-Magenis Syndrome |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aVasanth, Shivakumar | |
| 700 | 1 | _aShinawi, Marwan | |
| 700 | 1 | _aRussell, Chad | |
| 700 | 1 | _aRamocki, Melissa B | |
| 700 | 1 | _aBrown, Chester W | |
| 700 | 1 | _aGraakjaer, Jesper | |
| 700 | 1 | _aSkytte, Anne-Bine | |
| 700 | 1 | _aVianna-Morgante, Angela M | |
| 700 | 1 | _aKrepischi, Ana C V | |
| 700 | 1 | _aPatel, Gayle S | |
| 700 | 1 | _aImmken, LaDonna | |
| 700 | 1 | _aAleck, Kyrieckos | |
| 700 | 1 | _aLim, Cynthia | |
| 700 | 1 | _aCheung, Sau Wai | |
| 700 | 1 | _aRosenberg, Carla | |
| 700 | 1 | _aKatsanis, Nicholas | |
| 700 | 1 | _aLupski, James R | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 95 _gno. 5 _gp. 565-78 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2014.10.006 _zAvailable from publisher's website |
| 999 |
_c24394679 _d24394679 |
||