Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
about
Genotype-phenotype correlation in 22q11.2 deletion syndrome.Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three familiesIntergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome.Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia.CNV Concordance in 1,097 MZ Twin Pairs.Molecular genetics of 22q11.2 deletion syndrome
P2860
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P2860
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@en
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@nl
type
label
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@en
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@nl
prefLabel
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@en
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@nl
P2093
P2860
P356
P1476
Chromosome 22q11.2 microdeleti ...... nt phenotype and deletion size
@en
P2093
Binuja Varma
Isha Chaudhary
Manish Jain
P2860
P2888
P356
10.1186/1755-8166-5-13
P50
P577
2012-03-13T00:00:00Z
P5875
P6179
1002368997