| 000 | 01602 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516034601.0 | ||
| 264 | 0 | _c20111031 | |
| 008 | 201110s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2011.03.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFaguer, Stanislas | |
| 245 | 0 | 0 |
_aA 17q12 chromosomal duplication associated with renal disease and esophageal atresia. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _c |
||
| 300 |
_ae437-40 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xgenetics |
| 650 | 0 | 4 |
_aEsophageal Atresia _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHepatocyte Nuclear Factor 1-beta _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aKidney Diseases _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aTrisomy _xgenetics |
| 700 | 1 | _aChassaing, Nicolas | |
| 700 | 1 | _aBandin, Flavio | |
| 700 | 1 | _aProuheze, Cathie | |
| 700 | 1 | _aArveiler, Benoît | |
| 700 | 1 | _aRooryck, Caroline | |
| 700 | 1 | _aNogier, Marie-Béatrice | |
| 700 | 1 | _aChauveau, Dominique | |
| 700 | 1 | _aCalvas, Patrick | |
| 700 | 1 | _aDecramer, Stéphane | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 54 _gno. 4 _gp. e437-40 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2011.03.010 _zAvailable from publisher's website |
| 999 |
_c20804084 _d20804084 |
||