| 000 | 01676 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517175248.0 | ||
| 264 | 0 | _c20180101 | |
| 008 | 201801s 0 0 eng d | ||
| 022 | _a2373-2873 | ||
| 024 | 7 |
_a10.1101/mcs.a002162 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKaiwar, Charu | |
| 245 | 0 | 0 |
_aNovel _h[electronic resource] |
| 260 |
_bCold Spring Harbor molecular case studies _cNov 2017 |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Review | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAutism Spectrum Disorder _xgenetics |
| 650 | 0 | 4 |
_aCOUP Transcription Factor I _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophies, Hereditary _xgenetics |
| 650 | 0 | 4 |
_aOptic Atrophy _xgenetics |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aZimmermann, Michael T | |
| 700 | 1 | _aFerber, Matthew J | |
| 700 | 1 | _aNiu, Zhiyv | |
| 700 | 1 | _aUrrutia, Raul A | |
| 700 | 1 | _aKlee, Eric W | |
| 700 | 1 | _aBabovic-Vuksanovic, Dusica | |
| 773 | 0 |
_tCold Spring Harbor molecular case studies _gvol. 3 _gno. 6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1101/mcs.a002162 _zAvailable from publisher's website |
| 999 |
_c27617260 _d27617260 |
||