| 000 | 02421 a2200769 4500 | ||
|---|---|---|---|
| 005 | 20250516025814.0 | ||
| 264 | 0 | _c20111014 | |
| 008 | 201110s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.21492 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLepri, Francesca | |
| 245 | 0 | 0 |
_aSOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. _h[electronic resource] |
| 260 |
_bHuman mutation _cJul 2011 |
||
| 300 |
_a760-72 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 |
_aHeart Septal Defects, Atrial _xgenetics |
| 650 | 0 | 4 |
_aHeart Septal Defects, Ventricular _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aINDEL Mutation _xgenetics |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitogen-Activated Protein Kinase Kinases _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNoonan Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 |
_aPulmonary Valve Stenosis _xgenetics |
| 650 | 0 | 4 |
_aSOS1 Protein _xchemistry |
| 700 | 1 | _aDe Luca, Alessandro | |
| 700 | 1 | _aStella, Lorenzo | |
| 700 | 1 | _aRossi, Cesare | |
| 700 | 1 | _aBaldassarre, Giuseppina | |
| 700 | 1 | _aPantaleoni, Francesca | |
| 700 | 1 | _aCordeddu, Viviana | |
| 700 | 1 | _aWilliams, Bradley J | |
| 700 | 1 | _aDentici, Maria L | |
| 700 | 1 | _aCaputo, Viviana | |
| 700 | 1 | _aVenanzi, Serenella | |
| 700 | 1 | _aBonaguro, Michela | |
| 700 | 1 | _aKavamura, Ines | |
| 700 | 1 | _aFaienza, Maria F | |
| 700 | 1 | _aPilotta, Alba | |
| 700 | 1 | _aStanzial, Franco | |
| 700 | 1 | _aFaravelli, Francesca | |
| 700 | 1 | _aGabrielli, Orazio | |
| 700 | 1 | _aMarino, Bruno | |
| 700 | 1 | _aNeri, Giovanni | |
| 700 | 1 | _aSilengo, Margherita Cirillo | |
| 700 | 1 | _aFerrero, Giovanni B | |
| 700 | 1 | _aTorrrente, Isabella | |
| 700 | 1 | _aSelicorni, Angelo | |
| 700 | 1 | _aMazzanti, Laura | |
| 700 | 1 | _aDigilio, Maria C | |
| 700 | 1 | _aZampino, Giuseppe | |
| 700 | 1 | _aDallapiccola, Bruno | |
| 700 | 1 | _aGelb, Bruce D | |
| 700 | 1 | _aTartaglia, Marco | |
| 773 | 0 |
_tHuman mutation _gvol. 32 _gno. 7 _gp. 760-72 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.21492 _zAvailable from publisher's website |
| 999 |
_c20659852 _d20659852 |
||