| 000 | 03860 a2201285 4500 | ||
|---|---|---|---|
| 005 | 20250516135230.0 | ||
| 264 | 0 | _c20131025 | |
| 008 | 201310s 0 0 eng d | ||
| 022 | _a1660-2137 | ||
| 024 | 7 |
_a10.1159/000349989 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJaureguiberry, Graciana | |
| 245 | 0 | 0 |
_aNephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. _h[electronic resource] |
| 260 |
_bNephron. Physiology _c2012 |
||
| 300 |
_a1-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmelogenesis Imperfecta _xcomplications |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDental Enamel Proteins _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aGenome-Wide Association Study |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNephrocalcinosis _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aDe la Dure-Molla, Muriel | |
| 700 | 1 | _aParry, David | |
| 700 | 1 | _aQuentric, Mickael | |
| 700 | 1 | _aHimmerkus, Nina | |
| 700 | 1 | _aKoike, Toshiyasu | |
| 700 | 1 | _aPoulter, James | |
| 700 | 1 | _aKlootwijk, Enriko | |
| 700 | 1 | _aRobinette, Steven L | |
| 700 | 1 | _aHowie, Alexander J | |
| 700 | 1 | _aPatel, Vaksha | |
| 700 | 1 | _aFigueres, Marie-Lucile | |
| 700 | 1 | _aStanescu, Horia C | |
| 700 | 1 | _aIssler, Naomi | |
| 700 | 1 | _aNicholson, Jeremy K | |
| 700 | 1 | _aBockenhauer, Detlef | |
| 700 | 1 | _aLaing, Christopher | |
| 700 | 1 | _aWalsh, Stephen B | |
| 700 | 1 | _aMcCredie, David A | |
| 700 | 1 | _aPovey, Sue | |
| 700 | 1 | _aAsselin, Audrey | |
| 700 | 1 | _aPicard, Arnaud | |
| 700 | 1 | _aCoulomb, Aurore | |
| 700 | 1 | _aMedlar, Alan J | |
| 700 | 1 | _aBailleul-Forestier, Isabelle | |
| 700 | 1 | _aVerloes, Alain | |
| 700 | 1 | _aLe Caignec, Cedric | |
| 700 | 1 | _aRoussey, Gwenaelle | |
| 700 | 1 | _aGuiol, Julien | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aLogan, Clare | |
| 700 | 1 | _aShore, Roger | |
| 700 | 1 | _aJohnson, Colin | |
| 700 | 1 | _aInglehearn, Christopher | |
| 700 | 1 | _aAl-Bahlani, Suhaila | |
| 700 | 1 | _aSchmittbuhl, Matthieu | |
| 700 | 1 | _aClauss, François | |
| 700 | 1 | _aHuckert, Mathilde | |
| 700 | 1 | _aLaugel, Virginie | |
| 700 | 1 | _aGinglinger, Emmanuelle | |
| 700 | 1 | _aPajarola, Sandra | |
| 700 | 1 | _aSpartà, Giuseppina | |
| 700 | 1 | _aBartholdi, Deborah | |
| 700 | 1 | _aRauch, Anita | |
| 700 | 1 | _aAddor, Marie-Claude | |
| 700 | 1 | _aYamaguti, Paulo M | |
| 700 | 1 | _aSafatle, Heloisa P | |
| 700 | 1 | _aAcevedo, Ana Carolina | |
| 700 | 1 | _aMartelli-Júnior, Hercílio | |
| 700 | 1 | _ados Santos Netos, Pedro E | |
| 700 | 1 | _aColetta, Ricardo D | |
| 700 | 1 | _aGruessel, Sandra | |
| 700 | 1 | _aSandmann, Carolin | |
| 700 | 1 | _aRuehmann, Denise | |
| 700 | 1 | _aLangman, Craig B | |
| 700 | 1 | _aScheinman, Steven J | |
| 700 | 1 | _aOzdemir-Ozenen, Didem | |
| 700 | 1 | _aHart, Thomas C | |
| 700 | 1 | _aHart, P Suzanne | |
| 700 | 1 | _aNeugebauer, Ute | |
| 700 | 1 | _aSchlatter, Eberhard | |
| 700 | 1 | _aHouillier, Pascal | |
| 700 | 1 | _aGahl, William A | |
| 700 | 1 | _aVikkula, Miikka | |
| 700 | 1 | _aBloch-Zupan, Agnès | |
| 700 | 1 | _aBleich, Markus | |
| 700 | 1 | _aKitagawa, Hiroshi | |
| 700 | 1 | _aUnwin, Robert J | |
| 700 | 1 | _aMighell, Alan | |
| 700 | 1 | _aBerdal, Ariane | |
| 700 | 1 | _aKleta, Robert | |
| 773 | 0 |
_tNephron. Physiology _gvol. 122 _gno. 1-2 _gp. 1-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000349989 _zAvailable from publisher's website |
| 999 |
_c22528638 _d22528638 |
||