| 000 | 01644 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514183502.0 | ||
| 264 | 0 | _c20040423 | |
| 008 | 200404s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.20592 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avon Bubnoff, Dagmar | |
| 245 | 0 | 0 |
_aPrimary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cApr 2004 |
||
| 300 |
_a293-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAnus, Imperforate _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 11 _xgenetics |
| 650 | 0 | 4 |
_aDysgammaglobulinemia _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmunoglobulin M _xdeficiency |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPsychomotor Disorders _xcomplications |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aKreiss-Nachtsheim, Martina | |
| 700 | 1 | _aNovak, Natalija | |
| 700 | 1 | _aEngels, Eva | |
| 700 | 1 | _aEngels, Hartmut | |
| 700 | 1 | _aBehrend, Claudia | |
| 700 | 1 | _aPropping, Peter | |
| 700 | 1 | _ade la Salle, Henri | |
| 700 | 1 | _aBieber, Thomas | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 126A _gno. 3 _gp. 293-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.20592 _zAvailable from publisher's website |
| 999 |
_c14771191 _d14771191 |
||