| 000 | 01721 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517201833.0 | ||
| 264 | 0 | _c20190228 | |
| 008 | 201902s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38620 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPinz, Hailey | |
| 245 | 0 | 0 |
_aDe novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c04 2018 |
||
| 300 |
_a969-972 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 |
_aUrogenital Abnormalities _xdiagnosis |
| 700 | 1 | _aPyle, Louise C | |
| 700 | 1 | _aLi, Dong | |
| 700 | 1 | _aIzumi, Kosuke | |
| 700 | 1 | _aSkraban, Cara | |
| 700 | 1 | _aTarpinian, Jennifer | |
| 700 | 1 | _aBraddock, Stephen R | |
| 700 | 1 | _aTelegrafi, Aida | |
| 700 | 1 | _aMonaghan, Kristin G | |
| 700 | 1 | _aZackai, Elaine | |
| 700 | 1 | _aBhoj, Elizabeth J | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 176 _gno. 4 _gp. 969-972 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38620 _zAvailable from publisher's website |
| 999 |
_c28088853 _d28088853 |
||