| 000 | 02995 a2200901 4500 | ||
|---|---|---|---|
| 005 | 20250517190849.0 | ||
| 264 | 0 | _c20190201 | |
| 008 | 201902s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2017.214 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLee, Eric | |
| 245 | 0 | 0 |
_aA craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c09 2018 |
||
| 300 |
_a1061-1068 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAustralia |
| 650 | 0 | 4 |
_aBasic Helix-Loop-Helix Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCranial Sutures _xpathology |
| 650 | 0 | 4 |
_aCraniosynostoses _xgenetics |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aEphrin-B1 _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblast Growth Factor 10 _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aNew Zealand |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aProspective Studies |
| 650 | 0 | 4 |
_aReceptor, Fibroblast Growth Factor, Type 1 _xgenetics |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 |
_aTwist-Related Protein 1 _xgenetics |
| 700 | 1 | _aLe, Trang | |
| 700 | 1 | _aZhu, Ying | |
| 700 | 1 | _aElakis, George | |
| 700 | 1 | _aTurner, Anne | |
| 700 | 1 | _aLo, William | |
| 700 | 1 | _aVenselaar, Hanka | |
| 700 | 1 | _aVerrenkamp, Carol-Ann | |
| 700 | 1 | _aSnow, Nicole | |
| 700 | 1 | _aMowat, David | |
| 700 | 1 | _aKirk, Edwin Philip | |
| 700 | 1 | _aSachdev, Rani | |
| 700 | 1 | _aSmith, Janine | |
| 700 | 1 | _aBrown, Natasha Jane | |
| 700 | 1 | _aWallis, Mathew | |
| 700 | 1 | _aBarnett, Chris | |
| 700 | 1 | _aMcKenzie, Fiona | |
| 700 | 1 | _aFreckmann, Mary-Louise | |
| 700 | 1 | _aCollins, Felicity | |
| 700 | 1 | _aChopra, Maya | |
| 700 | 1 | _aGregersen, Nerine | |
| 700 | 1 | _aHayes, Ian | |
| 700 | 1 | _aRajagopalan, Sulekha | |
| 700 | 1 | _aTan, Tiong Yang | |
| 700 | 1 | _aStark, Zornitza | |
| 700 | 1 | _aSavarirayan, Ravi | |
| 700 | 1 | _aYeung, Alison | |
| 700 | 1 | _aAdès, Lesley | |
| 700 | 1 | _aGattas, Michael | |
| 700 | 1 | _aGibson, Kate | |
| 700 | 1 | _aGabbett, Michael | |
| 700 | 1 | _aAmor, David John | |
| 700 | 1 | _aLattanzi, Wanda | |
| 700 | 1 | _aBoyd, Simeon | |
| 700 | 1 | _aHaan, Eric | |
| 700 | 1 | _aGianoutsos, Mark | |
| 700 | 1 | _aCox, Timothy Chilton | |
| 700 | 1 | _aBuckley, Michael Francis | |
| 700 | 1 | _aRoscioli, Tony | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 20 _gno. 9 _gp. 1061-1068 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2017.214 _zAvailable from publisher's website |
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_c27864573 _d27864573 |
||