| 000 | 01573 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250515123651.0 | ||
| 264 | 0 | _c20080820 | |
| 008 | 200808s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.32379 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKamoun-Goldrat, Agnès | |
| 245 | 0 | 0 |
_aA new osteogenesis imperfecta with improvement over time maps to 11q. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJul 2008 |
||
| 300 |
_a1807-14 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 11 _xgenetics |
| 650 | 0 | 4 |
_aCollagen _xgenetics |
| 650 | 0 | 4 |
_aCollagen Type I _xgenetics |
| 650 | 0 | 4 | _aCollagen Type I, alpha 1 Chain |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xclassification |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 700 | 1 | _aPannier, Stéphanie | |
| 700 | 1 | _aHuber, Céline | |
| 700 | 1 | _aFinidori, Georges | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aCormier-Daire, Valérie | |
| 700 | 1 | _aLe Merrer, Martine | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 146A _gno. 14 _gp. 1807-14 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32379 _zAvailable from publisher's website |
| 999 |
_c18038684 _d18038684 |
||