| 000 | 01912 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516092323.0 | ||
| 264 | 0 | _c20130104 | |
| 008 | 201301s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2012-100819 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNeed, Anna C | |
| 245 | 0 | 0 |
_aClinical application of exome sequencing in undiagnosed genetic conditions. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2012 |
||
| 300 |
_a353-61 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBasic Helix-Loop-Helix Leucine Zipper Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, Inborn _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Genetic |
| 650 | 0 | 4 |
_aMolecular Diagnostic Techniques _xmethods |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNAV1.2 Voltage-Gated Sodium Channel _xgenetics |
| 650 | 0 | 4 |
_aPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase _xgenetics |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aSmad4 Protein _xgenetics |
| 650 | 0 | 4 | _aTranscription Factor 4 |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aShashi, Vandana | |
| 700 | 1 | _aHitomi, Yuki | |
| 700 | 1 | _aSchoch, Kelly | |
| 700 | 1 | _aShianna, Kevin V | |
| 700 | 1 | _aMcDonald, Marie T | |
| 700 | 1 | _aMeisler, Miriam H | |
| 700 | 1 | _aGoldstein, David B | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 49 _gno. 6 _gp. 353-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2012-100819 _zAvailable from publisher's website |
| 999 |
_c21777630 _d21777630 |
||