| 000 | 01635 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517105719.0 | ||
| 264 | 0 | _c20180125 | |
| 008 | 201801s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2016.06.457 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPedurupillay, Christeen Ramane J | |
| 245 | 0 | 0 |
_aClinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _c09 2016 |
||
| 300 |
_a570-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRespiratory Insufficiency _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 |
_aSpinal Muscular Atrophies of Childhood _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aAmundsen, Silja S | |
| 700 | 1 | _aBarøy, Tuva | |
| 700 | 1 | _aRasmussen, Magnhild | |
| 700 | 1 | _aBlomhoff, Anne | |
| 700 | 1 | _aStadheim, Barbro Fossøy | |
| 700 | 1 | _aØrstavik, Kristin | |
| 700 | 1 | _aHolmgren, Asbjørn | |
| 700 | 1 | _aIqbal, Tahir | |
| 700 | 1 | _aFrengen, Eirik | |
| 700 | 1 | _aMisceo, Doriana | |
| 700 | 1 | _aStrømme, Petter | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 26 _gno. 9 _gp. 570-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2016.06.457 _zAvailable from publisher's website |
| 999 |
_c26258857 _d26258857 |
||