Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
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What Is New in Genetics of Congenital Heart Defects?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?The importance of copy number variation in congenital heart diseaseMALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.Genetics and genomics of autism spectrum disorder: embracing complexity.Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.DIDA: A curated and annotated digenic diseases database.Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome22q11.2 deletion syndromeA neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome.The Complex Genetic Basis of Congenital Heart Defects.The association between seminal vesicle size and duration of abstinence from ejaculation.Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.Sex-Specific Life Course Changes in the Neuro-Metabolic Phenotype of Glut3 Null Heterozygous Mice: Ketogenic Diet Ameliorates Electroencephalographic Seizures and Improves Sociability.Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Transgenerational cardiology: One way to a baby's heart is through the mother.MEF2C loss-of-function mutation contributes to congenital heart defects.TBX1 loss-of-function mutation contributes to congenital conotruncal defects.Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.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.Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection.Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.Molecular genetics of 22q11.2 deletion syndrome
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P2860
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Copy-Number Variation of the G ...... the 22q11.2 Deletion Syndrome.
@ast
Copy-Number Variation of the G ...... the 22q11.2 Deletion Syndrome.
@en
type
label
Copy-Number Variation of the G ...... the 22q11.2 Deletion Syndrome.
@ast
Copy-Number Variation of the G ...... the 22q11.2 Deletion Syndrome.
@en
prefLabel
Copy-Number Variation of the G ...... the 22q11.2 Deletion Syndrome.
@ast
Copy-Number Variation of the G ...... the 22q11.2 Deletion Syndrome.
@en
P2093
P2860
P50
P1476
Copy-Number Variation of the G ...... 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
P304
P356
10.1016/J.AJHG.2015.03.007
P407
P50
P577
2015-04-16T00:00:00Z