000 | 01810 a2200517 4500 | ||
---|---|---|---|
005 | 20250516085053.0 | ||
264 | 0 | _c20120531 | |
008 | 201205s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2012.02.013 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aItsara, Andy | |
245 | 0 | 0 |
_aResolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cApr 2012 |
||
300 |
_a599-613 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aChromosome Breakpoints |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xgenetics |
650 | 0 | 4 |
_aComparative Genomic Hybridization _xmethods |
650 | 0 | 4 | _aDNA Copy Number Variations |
650 | 0 | 4 | _aHaplotypes |
650 | 0 | 4 | _aHomologous Recombination |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aSegmental Duplications, Genomic |
650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
650 | 0 | 4 | _aSmith-Magenis Syndrome |
700 | 1 | _aVissers, Lisenka E L M | |
700 | 1 | _aSteinberg, Karyn Meltz | |
700 | 1 | _aMeyer, Kevin J | |
700 | 1 | _aZody, Michael C | |
700 | 1 | _aKoolen, David A | |
700 | 1 | _ade Ligt, Joep | |
700 | 1 | _aCuppen, Edwin | |
700 | 1 | _aBaker, Carl | |
700 | 1 | _aLee, Choli | |
700 | 1 | _aGraves, Tina A | |
700 | 1 | _aWilson, Richard K | |
700 | 1 | _aJenkins, Robert B | |
700 | 1 | _aVeltman, Joris A | |
700 | 1 | _aEichler, Evan E | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 90 _gno. 4 _gp. 599-613 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2012.02.013 _zAvailable from publisher's website |
999 |
_c21684838 _d21684838 |