000 | 01971 a2200613 4500 | ||
---|---|---|---|
005 | 20250517101209.0 | ||
264 | 0 | _c20171019 | |
008 | 201710s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.37783 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aSrivastava, Siddharth | |
245 | 0 | 0 |
_aBRAT1 mutations present with a spectrum of clinical severity. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _c09 2016 |
||
300 |
_a2265-73 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Review; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 |
_aBrain _xpathology |
650 | 0 | 4 |
_aCerebellum _xabnormalities |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aEpilepsy _xdiagnosis |
650 | 0 | 4 | _aExome |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aSeverity of Illness Index |
700 | 1 | _aOlson, Heather E | |
700 | 1 | _aCohen, Julie S | |
700 | 1 | _aGubbels, Cynthia S | |
700 | 1 | _aLincoln, Sharyn | |
700 | 1 | _aDavis, Brigette Tippin | |
700 | 1 | _aShahmirzadi, Layla | |
700 | 1 | _aGupta, Siddharth | |
700 | 1 | _aPicker, Jonathan | |
700 | 1 | _aYu, Timothy W | |
700 | 1 | _aMiller, David T | |
700 | 1 | _aSoul, Janet S | |
700 | 1 | _aPoretti, Andrea | |
700 | 1 | _aNaidu, SakkuBai | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170 _gno. 9 _gp. 2265-73 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37783 _zAvailable from publisher's website |
999 |
_c26109037 _d26109037 |