| 000 | 01215 a2200325 4500 | ||
|---|---|---|---|
| 005 | 20250518075942.0 | ||
| 264 | 0 | _c20210525 | |
| 008 | 202105s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/s41431-019-0565-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEintracht, Jonathan | |
| 245 | 0 | 0 |
_aCUGC for syndromic microphthalmia including next-generation sequencing-based approaches. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c05 2020 |
||
| 300 |
_a679-690 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aGenetic Loci |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMicrophthalmos _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aSensitivity and Specificity |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 700 | 1 | _aCorton, Marta | |
| 700 | 1 | _aFitzPatrick, David | |
| 700 | 1 | _aMoosajee, Mariya | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 28 _gno. 5 _gp. 679-690 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41431-019-0565-4 _zAvailable from publisher's website |
| 999 |
_c30478852 _d30478852 |
||