| 000 | 03121 a2201033 4500 | ||
|---|---|---|---|
| 005 | 20250516133341.0 | ||
| 264 | 0 | _c20130903 | |
| 008 | 201309s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2012-101427 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aThauvin-Robinet, Christel | |
| 245 | 0 | 0 |
_aCFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cApr 2013 |
||
| 300 |
_a220-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCystic Fibrosis _xcomplications |
| 650 | 0 | 4 |
_aCystic Fibrosis Transmembrane Conductance Regulator _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aInfertility, Male _xcomplications |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMale Urogenital Diseases _xcomplications |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation Rate |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 |
_aSweat _xchemistry |
| 650 | 0 | 4 |
_aVas Deferens _xabnormalities |
| 700 | 1 | _aMunck, Anne | |
| 700 | 1 | _aHuet, Frédéric | |
| 700 | 1 | _ade Becdelièvre, Alix | |
| 700 | 1 | _aJimenez, Clément | |
| 700 | 1 | _aLalau, Guy | |
| 700 | 1 | _aGautier, Elodie | |
| 700 | 1 | _aRollet, Jacques | |
| 700 | 1 | _aFlori, Jean | |
| 700 | 1 | _aNové-Josserand, Raphaëlle | |
| 700 | 1 | _aSoufir, Jean-Claude | |
| 700 | 1 | _aHaloun, Alain | |
| 700 | 1 | _aHubert, Dominique | |
| 700 | 1 | _aHoussin, Elise | |
| 700 | 1 | _aBellis, Gil | |
| 700 | 1 | _aRault, Gilles | |
| 700 | 1 | _aDavid, Albert | |
| 700 | 1 | _aJanny, Laurent | |
| 700 | 1 | _aChiron, Raphaël | |
| 700 | 1 | _aRives, Nathalie | |
| 700 | 1 | _aHairion, Dominique | |
| 700 | 1 | _aCollignon, Patrick | |
| 700 | 1 | _aValeri, Antoine | |
| 700 | 1 | _aKarsenty, Gilles | |
| 700 | 1 | _aRossi, Annick | |
| 700 | 1 | _aAudrézet, Marie-Pierre | |
| 700 | 1 | _aFérec, Claude | |
| 700 | 1 | _aLeclerc, Julie | |
| 700 | 1 | _aGeorges, Marie des | |
| 700 | 1 | _aClaustres, Mireille | |
| 700 | 1 | _aBienvenu, Thierry | |
| 700 | 1 | _aGérard, Bénédicte | |
| 700 | 1 | _aBoisseau, Pierre | |
| 700 | 1 | _aCabet-Bey, Faïza | |
| 700 | 1 | _aCheillan, David | |
| 700 | 1 | _aFeldmann, Delphine | |
| 700 | 1 | _aClavel, Christine | |
| 700 | 1 | _aBieth, Eric | |
| 700 | 1 | _aIron, Albert | |
| 700 | 1 | _aSimon-Bouy, Brigitte | |
| 700 | 1 | _aIzard, Vincent | |
| 700 | 1 | _aSteffann, Julie | |
| 700 | 1 | _aViville, Stéphane | |
| 700 | 1 | _aCosta, Catherine | |
| 700 | 1 | _aDrouineaud, Véronique | |
| 700 | 1 | _aFauque, Patricia | |
| 700 | 1 | _aBinquet, Christine | |
| 700 | 1 | _aBonithon-Kopp, Claire | |
| 700 | 1 | _aMorris, Mike A | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aGoossens, Michel | |
| 700 | 1 | _aRoussey, Michel | |
| 700 | 1 | _aGirodon, Emmanuelle | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 50 _gno. 4 _gp. 220-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2012-101427 _zAvailable from publisher's website |
| 999 |
_c22474848 _d22474848 |
||