| 000 | 02690 a2200817 4500 | ||
|---|---|---|---|
| 005 | 20250517022235.0 | ||
| 264 | 0 | _c20150529 | |
| 008 | 201505s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2015.01.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGordon, Christopher T | |
| 245 | 0 | 0 |
_aMutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cApr 2015 |
||
| 300 |
_a519-31 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAlopecia _xgenetics |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aEndothelin-1 _xmetabolism |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization |
| 650 | 0 | 4 |
_aMandibulofacial Dysostosis _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMorpholinos _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRNA, Messenger _xadministration & dosage |
| 650 | 0 | 4 | _aReal-Time Polymerase Chain Reaction |
| 650 | 0 | 4 |
_aReceptor, Endothelin A _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aTomography, X-Ray Computed |
| 650 | 0 | 4 | _aZebrafish |
| 650 | 0 | 4 |
_aZygoma _xpathology |
| 700 | 1 | _aWeaver, K Nicole | |
| 700 | 1 | _aZechi-Ceide, Roseli Maria | |
| 700 | 1 | _aMadsen, Erik C | |
| 700 | 1 | _aTavares, Andre L P | |
| 700 | 1 | _aOufadem, Myriam | |
| 700 | 1 | _aKurihara, Yukiko | |
| 700 | 1 | _aAdameyko, Igor | |
| 700 | 1 | _aPicard, Arnaud | |
| 700 | 1 | _aBreton, Sylvain | |
| 700 | 1 | _aPierrot, Sébastien | |
| 700 | 1 | _aBiosse-Duplan, Martin | |
| 700 | 1 | _aVoisin, Norine | |
| 700 | 1 | _aMasson, Cécile | |
| 700 | 1 | _aBole-Feysot, Christine | |
| 700 | 1 | _aNitschké, Patrick | |
| 700 | 1 | _aDelrue, Marie-Ange | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aGuion-Almeida, Maria Leine | |
| 700 | 1 | _aMoura, Priscila Padilha | |
| 700 | 1 | _aGarib, Daniela Gamba | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aErnfors, Patrik | |
| 700 | 1 | _aHufnagel, Robert B | |
| 700 | 1 | _aHopkin, Robert J | |
| 700 | 1 | _aKurihara, Hiroki | |
| 700 | 1 | _aSaal, Howard M | |
| 700 | 1 | _aWeaver, David D | |
| 700 | 1 | _aKatsanis, Nicholas | |
| 700 | 1 | _aLyonnet, Stanislas | |
| 700 | 1 | _aGolzio, Christelle | |
| 700 | 1 | _aClouthier, David E | |
| 700 | 1 | _aAmiel, Jeanne | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 96 _gno. 4 _gp. 519-31 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2015.01.015 _zAvailable from publisher's website |
| 999 |
_c24709704 _d24709704 |
||