| 000 | 01892 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517194101.0 | ||
| 264 | 0 | _c20181221 | |
| 008 | 201812s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/s41431-017-0068-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZepeda-Mendoza, Cinthya J | |
| 245 | 0 | 0 |
_aPhenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c03 2018 |
||
| 300 |
_a374-381 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aCadherin Related Proteins |
| 650 | 0 | 4 |
_aCadherins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromatin _xchemistry |
| 650 | 0 | 4 | _aChromosomal Position Effects |
| 650 | 0 | 4 | _aChromosome Aberrations |
| 650 | 0 | 4 |
_aChromosome Disorders _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aForkhead Transcription Factors _xgenetics |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPlatelet Glycoprotein GPIb-IX Complex _xgenetics |
| 650 | 0 | 4 | _aProtein-Arginine Deiminase Type 3 |
| 650 | 0 | 4 | _aProtein-Arginine Deiminase Type 4 |
| 650 | 0 | 4 |
_aProtein-Arginine Deiminases _xgenetics |
| 700 | 1 | _aBardon, Alexandra | |
| 700 | 1 | _aKammin, Tammy | |
| 700 | 1 | _aHarris, David J | |
| 700 | 1 | _aCox, Helen | |
| 700 | 1 | _aRedin, Claire | |
| 700 | 1 | _aOrdulu, Zehra | |
| 700 | 1 | _aTalkowski, Michael E | |
| 700 | 1 | _aMorton, Cynthia C | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 26 _gno. 3 _gp. 374-381 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41431-017-0068-0 _zAvailable from publisher's website |
| 999 |
_c27967943 _d27967943 |
||