| 000 | 01448 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250518005030.0 | ||
| 264 | 0 | _c20190123 | |
| 008 | 201901s 0 0 eng d | ||
| 022 | _a2324-9269 | ||
| 024 | 7 |
_a10.1002/mgg3.490 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aElbracht, Miriam | |
| 245 | 0 | 0 |
_aFamilial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. _h[electronic resource] |
| 260 |
_bMolecular genetics & genomic medicine _c11 2018 |
||
| 300 |
_a1255-1260 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aContracture _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypokinesia _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNedd4 Ubiquitin Protein Ligases _xgenetics |
| 650 | 0 | 4 |
_aPeriventricular Nodular Heterotopia _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aKraft, Florian | |
| 700 | 1 | _aBegemann, Matthias | |
| 700 | 1 | _aHolschbach, Petra | |
| 700 | 1 | _aMull, Michael | |
| 700 | 1 | _aKabat, Ildiko M | |
| 700 | 1 | _aMüller, Britta | |
| 700 | 1 | _aHäusler, Martin | |
| 700 | 1 | _aKurth, Ingo | |
| 700 | 1 | _aHehr, Ute | |
| 773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 6 _gno. 6 _gp. 1255-1260 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.490 _zAvailable from publisher's website |
| 999 |
_c29010395 _d29010395 |
||