000 | 02060 a2200601 4500 | ||
---|---|---|---|
005 | 20250517124614.0 | ||
264 | 0 | _c20180112 | |
008 | 201801s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.23146 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aNilsson, Daniel | |
245 | 0 | 0 |
_aWhole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. _h[electronic resource] |
260 |
_bHuman mutation _c02 2017 |
||
300 |
_a180-192 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aChromosome Breakage |
650 | 0 | 4 | _aChromosome Mapping |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 | _aDNA Copy Number Variations |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 |
_aGenomics _xmethods |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHomologous Recombination |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aKaryotype |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aTranslocation, Genetic |
650 | 0 | 4 | _aWhole Genome Sequencing |
700 | 1 | _aPettersson, Maria | |
700 | 1 | _aGustavsson, Peter | |
700 | 1 | _aFörster, Alisa | |
700 | 1 | _aHofmeister, Wolfgang | |
700 | 1 | _aWincent, Josephine | |
700 | 1 | _aZachariadis, Vasilios | |
700 | 1 | _aAnderlid, Britt-Marie | |
700 | 1 | _aNordgren, Ann | |
700 | 1 | _aMäkitie, Outi | |
700 | 1 | _aWirta, Valtteri | |
700 | 1 | _aKäller, Max | |
700 | 1 | _aVezzi, Francesco | |
700 | 1 | _aLupski, James R | |
700 | 1 | _aNordenskjöld, Magnus | |
700 | 1 | _aLundberg, Elisabeth Syk | |
700 | 1 | _aCarvalho, Claudia M B | |
700 | 1 | _aLindstrand, Anna | |
773 | 0 |
_tHuman mutation _gvol. 38 _gno. 2 _gp. 180-192 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23146 _zAvailable from publisher's website |
999 |
_c26618218 _d26618218 |