000 | 01625 a2200457 4500 | ||
---|---|---|---|
005 | 20250515020802.0 | ||
264 | 0 | _c20060525 | |
008 | 200605s 0 0 eng d | ||
022 | _a0009-9163 | ||
024 | 7 |
_a10.1111/j.1399-0004.2006.00576.x _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aStevenson, D A | |
245 | 0 | 0 |
_aClinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. _h[electronic resource] |
260 |
_bClinical genetics _cMar 2006 |
||
300 |
_a246-53 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAlleles |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenes, Neurofibromatosis 1 |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNeurofibromatosis 1 _xcomplications |
650 | 0 | 4 |
_aNoonan Syndrome _xcomplications |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aProtein Tyrosine Phosphatase, Non-Receptor Type 1 |
650 | 0 | 4 | _aProtein Tyrosine Phosphatase, Non-Receptor Type 11 |
650 | 0 | 4 |
_aProtein Tyrosine Phosphatases _xgenetics |
650 | 0 | 4 | _aSequence Deletion |
700 | 1 | _aViskochil, D H | |
700 | 1 | _aRope, A F | |
700 | 1 | _aCarey, J C | |
773 | 0 |
_tClinical genetics _gvol. 69 _gno. 3 _gp. 246-53 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2006.00576.x _zAvailable from publisher's website |
999 |
_c16150987 _d16150987 |