| 000 | 01210 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250516105003.0 | ||
| 264 | 0 | _c20121109 | |
| 008 | 201211s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.35504 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNizon, Mathilde | |
| 245 | 0 | 0 |
_aIMPAD1 mutations in two Catel-Manzke like patients. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cSep 2012 |
||
| 300 |
_a2183-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aHand Deformities, Congenital _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPhosphoric Monoester Hydrolases _xgenetics |
| 650 | 0 | 4 |
_aPierre Robin Syndrome _xenzymology |
| 700 | 1 | _aAlanay, Yasemin | |
| 700 | 1 | _aTuysuz, Beyhan | |
| 700 | 1 | _aKiper, Pelin Ozlem Simsek | |
| 700 | 1 | _aGeneviève, David | |
| 700 | 1 | _aSillence, David | |
| 700 | 1 | _aHuber, Celine | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aCormier-Daire, Valérie | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 158A _gno. 9 _gp. 2183-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35504 _zAvailable from publisher's website |
| 999 |
_c22019983 _d22019983 |
||