| 000 | 01891 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250515175055.0 | ||
| 264 | 0 | _c20100120 | |
| 008 | 201001s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2009.75 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVan Dijk, Fleur S | |
| 245 | 0 | 0 |
_aCRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cDec 2009 |
||
| 300 |
_a1560-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetus _xabnormalities |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMolecular Biology _xmethods |
| 650 | 0 | 4 | _aMolecular Chaperones |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xdiagnostic imaging |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aRadiography |
| 700 | 1 | _aNesbitt, Isabel M | |
| 700 | 1 | _aNikkels, Peter G J | |
| 700 | 1 | _aDalton, Ann | |
| 700 | 1 | _aBongers, Ernie M H F | |
| 700 | 1 | _avan de Kamp, Jiddeke M | |
| 700 | 1 | _aHilhorst-Hofstee, Yvonne | |
| 700 | 1 | _aDen Hollander, Nicolette S | |
| 700 | 1 | _aLachmeijer, Augusta M A | |
| 700 | 1 | _aMarcelis, Carlo L | |
| 700 | 1 | _aTan-Sindhunata, Gita M B | |
| 700 | 1 | _avan Rijn, Rick R | |
| 700 | 1 | _aMeijers-Heijboer, Hanne | |
| 700 | 1 | _aCobben, Jan M | |
| 700 | 1 | _aPals, Gerard | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 17 _gno. 12 _gp. 1560-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2009.75 _zAvailable from publisher's website |
| 999 |
_c18968109 _d18968109 |
||