| 000 | 01806 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517070156.0 | ||
| 264 | 0 | _c20161213 | |
| 008 | 201612s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2015.11.013 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSvojgr, Karel | |
| 245 | 0 | 0 |
_aFanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cMar 2016 |
||
| 300 |
_a152-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAntineoplastic Combined Chemotherapy Protocols _xtherapeutic use |
| 650 | 0 | 4 |
_aBRCA2 Protein _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 |
_aFanconi Anemia _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunophenotyping |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aLoss of Heterozygosity |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 700 | 1 | _aSumerauer, David | |
| 700 | 1 | _aPuchmajerova, Alena | |
| 700 | 1 | _aVicha, Ales | |
| 700 | 1 | _aHrusak, Ondrej | |
| 700 | 1 | _aMichalova, Kyra | |
| 700 | 1 | _aMalis, Josef | |
| 700 | 1 | _aSmisek, Petr | |
| 700 | 1 | _aKyncl, Martin | |
| 700 | 1 | _aNovotna, Drahuse | |
| 700 | 1 | _aMachackova, Eva | |
| 700 | 1 | _aJencik, Jan | |
| 700 | 1 | _aPycha, Karel | |
| 700 | 1 | _aVaculik, Miroslav | |
| 700 | 1 | _aKodet, Roman | |
| 700 | 1 | _aStary, Jan | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 59 _gno. 3 _gp. 152-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2015.11.013 _zAvailable from publisher's website |
| 999 |
_c25532731 _d25532731 |
||