| 000 | 01830 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516051018.0 | ||
| 264 | 0 | _c20120402 | |
| 008 | 201204s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2011.134 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSugarman, Elaine A | |
| 245 | 0 | 0 |
_aPan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2012 |
||
| 300 |
_a27-32 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 |
_aEthnicity _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetus _xcytology |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 |
_aGenetic Carrier Screening _xmethods |
| 650 | 0 | 4 | _aGenetic Counseling |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Atrophy, Spinal _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPrenatal Diagnosis _xmethods |
| 650 | 0 | 4 | _aReproducibility of Results |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aSurvival of Motor Neuron 1 Protein _xgenetics |
| 650 | 0 | 4 |
_aUnited States _xepidemiology |
| 700 | 1 | _aNagan, Narasimhan | |
| 700 | 1 | _aZhu, Hui | |
| 700 | 1 | _aAkmaev, Viatcheslav R | |
| 700 | 1 | _aZhou, Zhaoqing | |
| 700 | 1 | _aRohlfs, Elizabeth M | |
| 700 | 1 | _aFlynn, Kerry | |
| 700 | 1 | _aHendrickson, Brant C | |
| 700 | 1 | _aScholl, Thomas | |
| 700 | 1 | _aSirko-Osadsa, Deborah Alexa | |
| 700 | 1 | _aAllitto, Bernice A | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 20 _gno. 1 _gp. 27-32 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2011.134 _zAvailable from publisher's website |
| 999 |
_c21056738 _d21056738 |
||