| 000 | 03139 a2201009 4500 | ||
|---|---|---|---|
| 005 | 20250517065215.0 | ||
| 264 | 0 | _c20170726 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2015.250 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBarat-Houari, Mouna | |
| 245 | 0 | 0 |
_aThe expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c07 2016 |
||
| 300 |
_a992-1000 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aArthritis _xgenetics |
| 650 | 0 | 4 |
_aCollagen Diseases _xgenetics |
| 650 | 0 | 4 |
_aCollagen Type II _xchemistry |
| 650 | 0 | 4 |
_aConnective Tissue Diseases _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Domains |
| 650 | 0 | 4 |
_aRetinal Detachment _xgenetics |
| 700 | 1 | _aDumont, Bruno | |
| 700 | 1 | _aFabre, Aurélie | |
| 700 | 1 | _aThem, Frédéric Tm | |
| 700 | 1 | _aAlembik, Yves | |
| 700 | 1 | _aAlessandri, Jean-Luc | |
| 700 | 1 | _aAmiel, Jeanne | |
| 700 | 1 | _aAudebert, Séverine | |
| 700 | 1 | _aBaumann-Morel, Clarisse | |
| 700 | 1 | _aBlanchet, Patricia | |
| 700 | 1 | _aBieth, Eric | |
| 700 | 1 | _aBrechard, Marie | |
| 700 | 1 | _aBusa, Tiffany | |
| 700 | 1 | _aCalvas, Patrick | |
| 700 | 1 | _aCapri, Yline | |
| 700 | 1 | _aCartault, François | |
| 700 | 1 | _aChassaing, Nicolas | |
| 700 | 1 | _aCiorca, Vidrica | |
| 700 | 1 | _aCoubes, Christine | |
| 700 | 1 | _aDavid, Albert | |
| 700 | 1 | _aDelezoide, Anne-Lise | |
| 700 | 1 | _aDupin-Deguine, Delphine | |
| 700 | 1 | _aEl Chehadeh, Salima | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aGiuliano, Fabienne | |
| 700 | 1 | _aGoldenberg, Alice | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aJacquemont, Marie-Line | |
| 700 | 1 | _aJulia, Sophie | |
| 700 | 1 | _aKaplan, Josseline | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aLebrun, Marine | |
| 700 | 1 | _aMarlin, Sandrine | |
| 700 | 1 | _aMartin-Coignard, Dominique | |
| 700 | 1 | _aMartinovic, Jelena | |
| 700 | 1 | _aMasurel, Alice | |
| 700 | 1 | _aMelki, Judith | |
| 700 | 1 | _aMozelle-Nivoix, Monique | |
| 700 | 1 | _aNguyen, Karine | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aPhilip, Nicole | |
| 700 | 1 | _aPinson, Lucile | |
| 700 | 1 | _aPlessis, Ghislaine | |
| 700 | 1 | _aQuélin, Chloé | |
| 700 | 1 | _aShaeffer, Elise | |
| 700 | 1 | _aSigaudy, Sabine | |
| 700 | 1 | _aThauvin, Christel | |
| 700 | 1 | _aTill, Marianne | |
| 700 | 1 | _aTouraine, Renaud | |
| 700 | 1 | _aVigneron, Jacqueline | |
| 700 | 1 | _aBaujat, Geneviève | |
| 700 | 1 | _aCormier-Daire, Valérie | |
| 700 | 1 | _aLe Merrer, Martine | |
| 700 | 1 | _aGeneviève, David | |
| 700 | 1 | _aTouitou, Isabelle | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 24 _gno. 7 _gp. 992-1000 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2015.250 _zAvailable from publisher's website |
| 999 |
_c25504152 _d25504152 |
||