| 000 | 01468 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517080756.0 | ||
| 264 | 0 | _c20170104 | |
| 008 | 201701s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37593 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTopa, Alexandra | |
| 245 | 0 | 0 |
_aNovel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2016 |
||
| 300 |
_a1155-64 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aBone Marrow Diseases _xgenetics |
| 650 | 0 | 4 |
_aExocrine Pancreatic Insufficiency _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aLipomatosis _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Diseases _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aMyofibrils _xgenetics |
| 650 | 0 | 4 |
_aMyosins _xbiosynthesis |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aShwachman-Diamond Syndrome |
| 700 | 1 | _aTulinius, Mar | |
| 700 | 1 | _aOldfors, Anders | |
| 700 | 1 | _aHedberg-Oldfors, Carola | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170A _gno. 5 _gp. 1155-64 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37593 _zAvailable from publisher's website |
| 999 |
_c25723223 _d25723223 |
||