Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
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Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?A Path to Implement Precision Child Health Cardiovascular MedicineThe importance of copy number variation in congenital heart diseaseIncidence of the 22q11.2 deletion in a large cohort of miscarriage samples.A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.Camptodactyly and the 22q11.2 deletion syndrome.Molecular genetics of 22q11.2 deletion syndromeGenetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
P2860
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P2860
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
@en
type
label
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
@en
prefLabel
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
@en
P2093
P2860
P50
P1433
P1476
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
@en
P2093
Amy E Roberts
Ann Swillen
Anne S Bassett
Beverly S Emanuel
Bruno Marino
Carrie E Bearden
Damian Heine-Suñer
Doron Gothelf
Elisabeth E Mlynarski
Elizabeth Goldmuntz
P2860
P2888
P304
P356
10.1007/S00439-015-1623-9
P50
P577
2016-01-07T00:00:00Z