| 000 | 01533 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517224532.0 | ||
| 264 | 0 | _c20190305 | |
| 008 | 201903s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2018.06.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchwartz, Talia S | |
| 245 | 0 | 0 |
_aExpanding the phenotypic spectrum associated with OPHN1 variants. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cFeb 2019 |
||
| 300 |
_a137-143 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aCytoskeletal Proteins _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aGTPase-Activating Proteins _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aWojcik, Monica H | |
| 700 | 1 | _aPelletier, Renee C | |
| 700 | 1 | _aEdward, Heather L | |
| 700 | 1 | _aPicker, Jonathan D | |
| 700 | 1 | _aHolm, Ingrid A | |
| 700 | 1 | _aTowne, Meghan C | |
| 700 | 1 | _aBeggs, Alan H | |
| 700 | 1 | _aAgrawal, Pankaj B | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 62 _gno. 2 _gp. 137-143 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2018.06.015 _zAvailable from publisher's website |
| 999 |
_c28586554 _d28586554 |
||