| 000 | 02382 a2200697 4500 | ||
|---|---|---|---|
| 005 | 20250518082817.0 | ||
| 264 | 0 | _c20210611 | |
| 008 | 202106s 0 0 eng d | ||
| 022 | _a1097-0223 | ||
| 024 | 7 |
_a10.1002/pd.5653 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHan, Jin | |
| 245 | 0 | 0 |
_aRapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management. _h[electronic resource] |
| 260 |
_bPrenatal diagnosis _c04 2020 |
||
| 300 |
_a577-584 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 |
_aAchondroplasia _xdiagnosis |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBrain Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aCampomelic Dysplasia _xdiagnosis |
| 650 | 0 | 4 |
_aCarbohydrate Metabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetal Growth Retardation _xdiagnosis |
| 650 | 0 | 4 |
_aGenetic Counseling _xmethods |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIchthyosis _xdiagnosis |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xdiagnosis |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xdiagnosis |
| 650 | 0 | 4 | _aParents |
| 650 | 0 | 4 | _aPathology, Molecular |
| 650 | 0 | 4 |
_aPhosphoglycerate Dehydrogenase _xdeficiency |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aPrenatal Care _xmethods |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 |
_aPsychomotor Disorders _xdiagnosis |
| 650 | 0 | 4 |
_aReceptor, Fibroblast Growth Factor, Type 3 _xdeficiency |
| 650 | 0 | 4 |
_aSeizures _xdiagnosis |
| 650 | 0 | 4 |
_aThanatophoric Dysplasia _xdiagnosis |
| 650 | 0 | 4 | _aTime Factors |
| 650 | 0 | 4 |
_aTrisomy 18 Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aUltrasonography, Prenatal |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aYang, Yan-Dong | |
| 700 | 1 | _aHe, Yi | |
| 700 | 1 | _aLiu, Wen-Jie | |
| 700 | 1 | _aZhen, Li | |
| 700 | 1 | _aPan, Min | |
| 700 | 1 | _aYang, Xin | |
| 700 | 1 | _aZhang, Victor Wei | |
| 700 | 1 | _aLiao, Can | |
| 700 | 1 | _aLi, Dong-Zhi | |
| 773 | 0 |
_tPrenatal diagnosis _gvol. 40 _gno. 5 _gp. 577-584 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/pd.5653 _zAvailable from publisher's website |
| 999 |
_c30573019 _d30573019 |
||