000 | 01658 a2200457 4500 | ||
---|---|---|---|
005 | 20250516185716.0 | ||
264 | 0 | _c20141103 | |
008 | 201411s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.36345 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aKamien, Benjamin | |
245 | 0 | 0 |
_aCharacterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cMar 2014 |
||
300 |
_a782-8 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aChild Behavior Disorders _xdiagnosis |
650 | 0 | 4 |
_aChild Development Disorders, Pervasive _xdiagnosis |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 | _aChromosomes, Human, Pair 15 |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 |
_aEpilepsy _xdiagnosis |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aHaplotypes |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aLinkage Disequilibrium |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
650 | 0 | 4 |
_aSialyltransferases _xgenetics |
700 | 1 | _aHarraway, James | |
700 | 1 | _aLundie, Ben | |
700 | 1 | _aSmallhorne, Lex | |
700 | 1 | _aGibbs, Vicki | |
700 | 1 | _aHeath, Anna | |
700 | 1 | _aFullerton, Janice M | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 3 _gp. 782-8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36345 _zAvailable from publisher's website |
999 |
_c23385430 _d23385430 |