| 000 | 01257 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250517224800.0 | ||
| 264 | 0 | _c20181211 | |
| 008 | 201812s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/s10038-018-0484-1 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBourque, Danielle K | |
| 245 | 0 | 0 |
_aPeriodic breathing in patients with NALCN mutations. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cOct 2018 |
||
| 300 |
_a1093-1096 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aIon Channels |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Proteins |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 |
_aRespiratory Mechanics _xgenetics |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 |
_aSodium Channels _xgenetics |
| 700 | 1 | _aDyment, David A | |
| 700 | 1 | _aMacLusky, Ian | |
| 700 | 1 | _aKernohan, Kristin D | |
| 700 | 1 | _aMcMillan, Hugh J | |
| 773 | 0 |
_tJournal of human genetics _gvol. 63 _gno. 10 _gp. 1093-1096 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s10038-018-0484-1 _zAvailable from publisher's website |
| 999 |
_c28595194 _d28595194 |
||