| 000 | 01354 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250516180835.0 | ||
| 264 | 0 | _c20140903 | |
| 008 | 201409s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2013.10.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEker, Hatice Koçak | |
| 245 | 0 | 0 |
_aCerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJan 2014 |
||
| 300 |
_a32-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 |
_aActins _xgenetics |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xdiagnosis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aMalformations of Cortical Development _xdiagnosis |
| 650 | 0 | 4 | _aMutation, Missense |
| 700 | 1 | _aDerinkuyu, Betül Emine | |
| 700 | 1 | _aÜnal, Sevim | |
| 700 | 1 | _aMasliah-Planchon, Julien | |
| 700 | 1 | _aDrunat, Séverine | |
| 700 | 1 | _aVerloes, Alain | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 57 _gno. 1 _gp. 32-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2013.10.005 _zAvailable from publisher's website |
| 999 |
_c23247971 _d23247971 |
||