000 | 01437 a2200469 4500 | ||
---|---|---|---|
005 | 20250517144705.0 | ||
264 | 0 | _c20180703 | |
008 | 201807s 0 0 eng d | ||
022 | _a1399-0004 | ||
024 | 7 |
_a10.1111/cge.13020 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aSharony, R | |
245 | 0 | 0 |
_aPrenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. _h[electronic resource] |
260 |
_bClinical genetics _cDec 2017 |
||
300 |
_a645-648 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 | _aAbortion, Eugenic |
650 | 0 | 4 | _aExome |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Expression |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aLimb Deformities, Congenital _xdiagnosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMatrix Metalloproteinase 9 _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPrenatal Diagnosis |
650 | 0 | 4 | _aSequence Analysis, DNA |
650 | 0 | 4 | _aSiblings |
700 | 1 | _aBorochowitz, Z | |
700 | 1 | _aCohen, L | |
700 | 1 | _aShtorch-Asor, A | |
700 | 1 | _aRosenfeld, R | |
700 | 1 | _aModai, S | |
700 | 1 | _aReinstein, E | |
773 | 0 |
_tClinical genetics _gvol. 92 _gno. 6 _gp. 645-648 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13020 _zAvailable from publisher's website |
999 |
_c27015267 _d27015267 |