| 000 | 02396 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250518070002.0 | ||
| 264 | 0 | _c20200408 | |
| 008 | 202004s 0 0 eng d | ||
| 022 | _a1756-994X | ||
| 024 | 7 |
_a10.1186/s13073-019-0675-1 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLindstrand, Anna | |
| 245 | 0 | 0 |
_aFrom cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. _h[electronic resource] |
| 260 |
_bGenome medicine _c11 2019 |
||
| 300 |
_a68 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Aberrations |
| 650 | 0 | 4 |
_aCytogenetic Analysis _xmethods |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 | _aDiagnostic Tests, Routine |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Markers |
| 650 | 0 | 4 | _aGenome, Human |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPilot Projects |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aProspective Studies |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aWhole Genome Sequencing _xmethods |
| 700 | 1 | _aEisfeldt, Jesper | |
| 700 | 1 | _aPettersson, Maria | |
| 700 | 1 | _aCarvalho, Claudia M B | |
| 700 | 1 | _aKvarnung, Malin | |
| 700 | 1 | _aGrigelioniene, Giedre | |
| 700 | 1 | _aAnderlid, Britt-Marie | |
| 700 | 1 | _aBjerin, Olof | |
| 700 | 1 | _aGustavsson, Peter | |
| 700 | 1 | _aHammarsjö, Anna | |
| 700 | 1 | _aGeorgii-Hemming, Patrik | |
| 700 | 1 | _aIwarsson, Erik | |
| 700 | 1 | _aJohansson-Soller, Maria | |
| 700 | 1 | _aLagerstedt-Robinson, Kristina | |
| 700 | 1 | _aLieden, Agne | |
| 700 | 1 | _aMagnusson, Måns | |
| 700 | 1 | _aMartin, Marcel | |
| 700 | 1 | _aMalmgren, Helena | |
| 700 | 1 | _aNordenskjöld, Magnus | |
| 700 | 1 | _aNorling, Ameli | |
| 700 | 1 | _aSahlin, Ellika | |
| 700 | 1 | _aStranneheim, Henrik | |
| 700 | 1 | _aTham, Emma | |
| 700 | 1 | _aWincent, Josephine | |
| 700 | 1 | _aYgberg, Sofia | |
| 700 | 1 | _aWedell, Anna | |
| 700 | 1 | _aWirta, Valtteri | |
| 700 | 1 | _aNordgren, Ann | |
| 700 | 1 | _aLundin, Johanna | |
| 700 | 1 | _aNilsson, Daniel | |
| 773 | 0 |
_tGenome medicine _gvol. 11 _gno. 1 _gp. 68 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13073-019-0675-1 _zAvailable from publisher's website |
| 999 |
_c30281195 _d30281195 |
||