000 | 02033 a2200601 4500 | ||
---|---|---|---|
005 | 20250515224432.0 | ||
264 | 0 | _c20100830 | |
008 | 201008s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.33453 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRomanelli, Valeria | |
245 | 0 | 0 |
_aCDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cJun 2010 |
||
300 |
_a1390-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aBeckwith-Wiedemann Syndrome _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aCyclin-Dependent Kinase Inhibitor p57 _xchemistry |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPolymorphism, Genetic |
650 | 0 | 4 | _aProtein Conformation |
700 | 1 | _aBelinchón, Alberta | |
700 | 1 | _aBenito-Sanz, Sara | |
700 | 1 | _aMartínez-Glez, Victor | |
700 | 1 | _aGracia-Bouthelier, Ricardo | |
700 | 1 | _aHeath, Karen E | |
700 | 1 | _aCampos-Barros, Angel | |
700 | 1 | _aGarcía-Miñaur, Sixto | |
700 | 1 | _aFernandez, Luís | |
700 | 1 | _aMeneses, Heloisa | |
700 | 1 | _aLópez-Siguero, Juan Pedro | |
700 | 1 | _aGuillén-Navarro, Encarna | |
700 | 1 | _aGómez-Puertas, Paulino | |
700 | 1 | _aWesselink, Jan-Jaap | |
700 | 1 | _aMercado, Graciela | |
700 | 1 | _aEsteban-Marfil, Victoria | |
700 | 1 | _aPalomo, Rebeca | |
700 | 1 | _aMena, Rocío | |
700 | 1 | _aSánchez, Aurora | |
700 | 1 | _aDel Campo, Miguel | |
700 | 1 | _aLapunzina, Pablo | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 6 _gp. 1390-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33453 _zAvailable from publisher's website |
999 |
_c19855871 _d19855871 |