| 000 | 01741 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516053654.0 | ||
| 264 | 0 | _c20120123 | |
| 008 | 201201s 0 0 eng d | ||
| 022 | _a1549-5469 | ||
| 024 | 7 |
_a10.1101/gr.122986.111 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSobreira, Nara L M | |
| 245 | 0 | 0 |
_aCharacterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. _h[electronic resource] |
| 260 |
_bGenome research _cOct 2011 |
||
| 300 |
_a1720-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCampomelic Dysplasia _xgenetics |
| 650 | 0 | 4 | _aChromosome Breakpoints |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human |
| 650 | 0 | 4 |
_aCleidocranial Dysplasia _xgenetics |
| 650 | 0 | 4 |
_aCore Binding Factor Alpha 1 Subunit _xgenetics |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSOX9 Transcription Factor _xgenetics |
| 650 | 0 | 4 | _aTranslocation, Genetic |
| 700 | 1 | _aGnanakkan, Veena | |
| 700 | 1 | _aWalsh, Michael | |
| 700 | 1 | _aMarosy, Beth | |
| 700 | 1 | _aWohler, Elizabeth | |
| 700 | 1 | _aThomas, George | |
| 700 | 1 | _aHoover-Fong, Julie E | |
| 700 | 1 | _aHamosh, Ada | |
| 700 | 1 | _aWheelan, Sarah J | |
| 700 | 1 | _aValle, David | |
| 773 | 0 |
_tGenome research _gvol. 21 _gno. 10 _gp. 1720-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1101/gr.122986.111 _zAvailable from publisher's website |
| 999 |
_c21132285 _d21132285 |
||