| 000 | 01014 a2200301 4500 | ||
|---|---|---|---|
| 005 | 20250517011830.0 | ||
| 264 | 0 | _c20150108 | |
| 008 | 201501s 0 0 eng d | ||
| 022 | _a1661-8769 | ||
| 024 | 7 |
_a10.1159/000366252 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuckert, Mathilde | |
| 245 | 0 | 0 |
_aA Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. _h[electronic resource] |
| 260 |
_bMolecular syndromology _cDec 2014 |
||
| 300 |
_a293-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 700 | 1 | _aMecili, Helen | |
| 700 | 1 | _aLaugel-Haushalter, Virginie | |
| 700 | 1 | _aStoetzel, Corinne | |
| 700 | 1 | _aMuller, Jean | |
| 700 | 1 | _aFlori, Elisabeth | |
| 700 | 1 | _aLaugel, Vincent | |
| 700 | 1 | _aManière, Marie-Cécile | |
| 700 | 1 | _aDollfus, Hélène | |
| 700 | 1 | _aBloch-Zupan, Agnès | |
| 773 | 0 |
_tMolecular syndromology _gvol. 5 _gno. 6 _gp. 293-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000366252 _zAvailable from publisher's website |
| 999 |
_c24512487 _d24512487 |
||