| 000 | 01384 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250518021839.0 | ||
| 264 | 0 | _c20200330 | |
| 008 | 202003s 0 0 eng d | ||
| 022 | _a2373-2873 | ||
| 024 | 7 |
_a10.1101/mcs.a003442 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRochtus, Anne M | |
| 245 | 0 | 0 |
_aMutations in _h[electronic resource] |
| 260 |
_bCold Spring Harbor molecular case studies _c02 2019 |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aCalcium-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aNeural Cell Adhesion Molecules _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRespiratory Insufficiency _xgenetics |
| 650 | 0 | 4 |
_aSpasms, Infantile _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aTrowbridge, Sara | |
| 700 | 1 | _aGoldstein, Richard D | |
| 700 | 1 | _aSheidley, Beth Rosen | |
| 700 | 1 | _aPrabhu, Sanjay P | |
| 700 | 1 | _aHaynes, Robin | |
| 700 | 1 | _aKinney, Hannah C | |
| 700 | 1 | _aPoduri, Annapurna H | |
| 773 | 0 |
_tCold Spring Harbor molecular case studies _gvol. 5 _gno. 1 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1101/mcs.a003442 _zAvailable from publisher's website |
| 999 |
_c29319642 _d29319642 |
||