| 000 | 01841 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250516180027.0 | ||
| 264 | 0 | _c20131230 | |
| 008 | 201312s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2013.10.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuber, Céline | |
| 245 | 0 | 0 |
_aWDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2013 |
||
| 300 |
_a926-31 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aCilia _xgenetics |
| 650 | 0 | 4 |
_aCytoplasmic Dyneins _xgenetics |
| 650 | 0 | 4 |
_aEllis-Van Creveld Syndrome _xgenetics |
| 650 | 0 | 4 | _aFibroblasts |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNF-kappa B _xmetabolism |
| 650 | 0 | 4 |
_aRibs _xabnormalities |
| 650 | 0 | 4 |
_aShort Rib-Polydactyly Syndrome _xgenetics |
| 650 | 0 | 4 | _aSignal Transduction |
| 700 | 1 | _aWu, Sulin | |
| 700 | 1 | _aKim, Ashley S | |
| 700 | 1 | _aSigaudy, Sabine | |
| 700 | 1 | _aSarukhanov, Anna | |
| 700 | 1 | _aSerre, Valérie | |
| 700 | 1 | _aBaujat, Genevieve | |
| 700 | 1 | _aLe Quan Sang, Kim-Hanh | |
| 700 | 1 | _aRimoin, David L | |
| 700 | 1 | _aCohn, Daniel H | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aKrakow, Deborah | |
| 700 | 1 | _aCormier-Daire, Valérie | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 93 _gno. 5 _gp. 926-31 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2013.10.007 _zAvailable from publisher's website |
| 999 |
_c23223114 _d23223114 |
||