000 | 01723 a2200493 4500 | ||
---|---|---|---|
005 | 20250514220500.0 | ||
264 | 0 | _c20050627 | |
008 | 200506s 0 0 eng d | ||
022 | _a1552-4825 | ||
024 | 7 |
_a10.1002/ajmg.a.30598 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aJongmans, Marjolijn | |
245 | 0 | 0 |
_aGenotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cApr 2005 |
||
300 |
_a165-70 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Frequency |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNoonan Syndrome _xgenetics |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aProtein Tyrosine Phosphatase, Non-Receptor Type 11 |
650 | 0 | 4 |
_aProtein Tyrosine Phosphatases _xgenetics |
650 | 0 | 4 | _aReview Literature as Topic |
650 | 0 | 4 | _aSH2 Domain-Containing Protein Tyrosine Phosphatases |
650 | 0 | 4 |
_asrc Homology Domains _xgenetics |
700 | 1 | _aSistermans, Erik A | |
700 | 1 | _aRikken, Alwin | |
700 | 1 | _aNillesen, Willy M | |
700 | 1 | _aTamminga, Rienk | |
700 | 1 | _aPatton, Michael | |
700 | 1 | _aMaier, Esther M | |
700 | 1 | _aTartaglia, Marco | |
700 | 1 | _aNoordam, Kees | |
700 | 1 | _avan der Burgt, Ineke | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 134A _gno. 2 _gp. 165-70 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.30598 _zAvailable from publisher's website |
999 |
_c15398298 _d15398298 |