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