000 01730 a2200553 4500
005 20250517031854.0
264 0 _c20160427
008 201604s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.22809
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMartinelli, Simone
245 0 0 _aMolecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
_h[electronic resource]
260 _bHuman mutation
_cAug 2015
300 _a787-96 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChild, Preschool
650 0 4 _aFemale
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Variation
650 0 4 _aGerm-Line Mutation
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aNoonan Syndrome
_xgenetics
650 0 4 _aProto-Oncogene Mas
650 0 4 _aProto-Oncogene Proteins c-cbl
_xgenetics
700 1 _aStellacci, Emilia
700 1 _aPannone, Luca
700 1 _aD'Agostino, Daniela
700 1 _aConsoli, Federica
700 1 _aLissewski, Christina
700 1 _aSilvano, Marianna
700 1 _aCencelli, Giulia
700 1 _aLepri, Francesca
700 1 _aMaitz, Silvia
700 1 _aPauli, Silke
700 1 _aRauch, Anita
700 1 _aZampino, Giuseppe
700 1 _aSelicorni, Angelo
700 1 _aMelançon, Serge
700 1 _aDigilio, Maria C
700 1 _aGelb, Bruce D
700 1 _aDe Luca, Alessandro
700 1 _aDallapiccola, Bruno
700 1 _aZenker, Martin
700 1 _aTartaglia, Marco
773 0 _tHuman mutation
_gvol. 36
_gno. 8
_gp. 787-96
856 4 0 _uhttps://doi.org/10.1002/humu.22809
_zAvailable from publisher's website
999 _c24879376
_d24879376