BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
about
Understanding the impact of 1q21.1 copy number variantMosaic copy number variation in schizophreniaProximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypesClinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.Are copy number variants associated with adolescent idiopathic scoliosis?An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.KDM4A lysine demethylase induces site-specific copy gain and rereplication of regions amplified in tumors1q21.1 microduplication in a patient with mental impairment and congenital heart defect.Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era1q21.1 Microduplication expression in adults.Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.Application of array-comparative genomic hybridization in tetralogy of Fallot.Transcription factor pathways and congenital heart disease.Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case seriesIdentification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
P2860
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P2860
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
description
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2009年の論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
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2009年論文
@zh-tw
2009年论文
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name
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@ast
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en-gb
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@nl
type
label
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@ast
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en-gb
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@nl
prefLabel
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@ast
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en-gb
BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@nl
P2093
P2860
P356
P1433
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BAC array CGH in patients with ...... ns on chromosome region 1q21.1
@en
P2093
Anna Brunet
Damià Heine
Elisabeth Gabau
Lluís Armengol
Manel García-Aragonés
Miriam Guitart
P2860
P2888
P356
10.1186/1471-2350-10-144
P407
P577
2009-01-01T00:00:00Z
P5875
P6179
1012920585