| 000 | 02553 a2200757 4500 | ||
|---|---|---|---|
| 005 | 20250516181523.0 | ||
| 264 | 0 | _c20150512 | |
| 008 | 201505s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2013.163 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aStewart, Douglas R | |
| 245 | 0 | 0 |
_aJaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _cJun 2014 |
||
| 300 |
_a448-59 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdaptor Proteins, Signal Transducing |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBone Neoplasms _xgenetics |
| 650 | 0 | 4 |
_aCafe-au-Lait Spots _xgenetics |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromogranins |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroma _xgenetics |
| 650 | 0 | 4 |
_aGTP-Binding Protein alpha Subunits, Gs _xgenetics |
| 650 | 0 | 4 | _aGerm-Line Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromatosis 1 _xdiagnosis |
| 650 | 0 | 4 |
_aNeurofibromin 1 _xgenetics |
| 650 | 0 | 4 | _aSex Ratio |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aBrems, Hilde | |
| 700 | 1 | _aGomes, Alicia G | |
| 700 | 1 | _aRuppert, Sarah L | |
| 700 | 1 | _aCallens, Tom | |
| 700 | 1 | _aWilliams, Jennifer | |
| 700 | 1 | _aClaes, Kathleen | |
| 700 | 1 | _aBober, Michael B | |
| 700 | 1 | _aHachen, Rachel | |
| 700 | 1 | _aKaban, Leonard B | |
| 700 | 1 | _aLi, Hua | |
| 700 | 1 | _aLin, Angela | |
| 700 | 1 | _aMcDonald, Marie | |
| 700 | 1 | _aMelancon, Serge | |
| 700 | 1 | _aOrtenberg, June | |
| 700 | 1 | _aRadtke, Heather B | |
| 700 | 1 | _aSamson, Ignace | |
| 700 | 1 | _aSaul, Robert A | |
| 700 | 1 | _aShen, Joseph | |
| 700 | 1 | _aSiqveland, Elizabeth | |
| 700 | 1 | _aToler, Tomi L | |
| 700 | 1 | _avan Maarle, Merel | |
| 700 | 1 | _aWallace, Margaret | |
| 700 | 1 | _aWilliams, Misti | |
| 700 | 1 | _aLegius, Eric | |
| 700 | 1 | _aMessiaen, Ludwine | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 16 _gno. 6 _gp. 448-59 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2013.163 _zAvailable from publisher's website |
| 999 |
_c23266900 _d23266900 |
||