| 000 | 01562 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250517155617.0 | ||
| 264 | 0 | _c20170803 | |
| 008 | 201708s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-017-0425-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPrchalova, Darina | |
| 245 | 0 | 0 |
_aAnalysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report. _h[electronic resource] |
| 260 |
_bBMC medical genetics _c06 2017 |
||
| 300 |
_a62 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFollow-Up Studies |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenomics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 | _aMicroarray Analysis |
| 650 | 0 | 4 |
_aMicrocephaly _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aras GTPase-Activating Proteins _xgenetics |
| 700 | 1 | _aHavlovicova, Marketa | |
| 700 | 1 | _aSterbova, Katalin | |
| 700 | 1 | _aStranecky, Viktor | |
| 700 | 1 | _aHancarova, Miroslava | |
| 700 | 1 | _aSedlacek, Zdenek | |
| 773 | 0 |
_tBMC medical genetics _gvol. 18 _gno. 1 _gp. 62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-017-0425-4 _zAvailable from publisher's website |
| 999 |
_c27240806 _d27240806 |
||