| 000 | 00984 a2200301 4500 | ||
|---|---|---|---|
| 005 | 20250517043838.0 | ||
| 264 | 0 | _c20160512 | |
| 008 | 201605s 0 0 eng d | ||
| 022 | _a2192-8304 | ||
| 024 | 7 |
_a10.1007/8904_2015_478 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTuysuz, Beyhan | |
| 245 | 0 | 0 |
_aPhenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. _h[electronic resource] |
| 260 |
_bJIMD reports _c2016 |
||
| 300 |
_a7-12 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 700 | 1 | _aPehlivan, Davut | |
| 700 | 1 | _aÖzkök, Ahmet | |
| 700 | 1 | _aJhangiani, Shalini | |
| 700 | 1 | _aYalcinkaya, Cengiz | |
| 700 | 1 | _aZeybek, Çiğdem Aktuğlu | |
| 700 | 1 | _aMuzny, Donna Marie | |
| 700 | 1 | _aLupski, James R | |
| 700 | 1 | _aGibbs, Richard | |
| 700 | 1 | _aJaeken, Jaak | |
| 773 | 0 |
_tJIMD reports _gvol. 26 _gp. 7-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/8904_2015_478 _zAvailable from publisher's website |
| 999 |
_c25117781 _d25117781 |
||