Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.
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The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
P2860
Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.
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Identification of copy number ...... variety of clinical findings.
@en
Identification of copy number ...... variety of clinical findings.
@nl
type
label
Identification of copy number ...... variety of clinical findings.
@en
Identification of copy number ...... variety of clinical findings.
@nl
prefLabel
Identification of copy number ...... variety of clinical findings.
@en
Identification of copy number ...... variety of clinical findings.
@nl
P2093
P2860
P356
P1476
Identification of copy number ...... variety of clinical findings.
@en
P2093
A Ramalingam
S J Brawner
P2860
P304
P356
10.1159/000330123
P577
2011-08-17T00:00:00Z