000 01660 a2200505 4500
005 20250518100317.0
264 0 _c20210528
008 202105s 0 0 eng d
022 _a2373-2873
024 7 _a10.1101/mcs.a004721
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSjaarda, Calvin P
245 0 0 _aDe novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.
_h[electronic resource]
260 _bCold Spring Harbor molecular case studies
_c06 2020
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChromosomes, Human, Pair 19
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aDNA Copy Number Variations
650 0 4 _aFacies
650 0 4 _aFamily
650 0 4 _aFemale
650 0 4 _aGene Dosage
650 0 4 _aGene Duplication
650 0 4 _aGene Expression Profiling
650 0 4 _aGenes, Essential
650 0 4 _aGenetic Association Studies
_xmethods
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aNeurodevelopmental Disorders
_xdiagnosis
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aRNA, Messenger
650 0 4 _aSiblings
700 1 _aKaiser, Beatrice
700 1 _aMcNaughton, Amy J M
700 1 _aHudson, Melissa L
700 1 _aHarris-Lowe, Liam
700 1 _aLou, Kyle
700 1 _aGuerin, Andrea
700 1 _aAyub, Muhammad
700 1 _aLiu, Xudong
773 0 _tCold Spring Harbor molecular case studies
_gvol. 6
_gno. 3
856 4 0 _uhttps://doi.org/10.1101/mcs.a004721
_zAvailable from publisher's website
999 _c30888136
_d30888136