Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

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http://www.wikidata.org/entity/Q42664011
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.Medical genetics and genomic medicine in Greece: achievements and challenges.Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndromePsychopathological and behavior impairments in Williams-Beuren syndrome: the influence of gender, chronological age, and cognition.Isolated Diffuse Supravalvular Aortic Stenosis with Severe Aortic Narrowing in a 41-Year-Old ManViewing social scenes: a visual scan-path study comparing fragile X syndrome and Williams syndrome.Interpretation of ambiguous situations: evidence for a dissociation between social and physical threat in williams syndrome.An unusual attraction to the eyes in Williams-Beuren syndrome: a manipulation of facial affect while measuring face scanpaths.I see happy people: Attention bias towards happy but not angry facial expressions in Williams syndrome.A longitudinal study of cognitive abilities in Williams syndrome.Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome
P2860

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Item
http://www.wikidata.org/entity/Q42664011
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Fluorescent in situ hybridisat ...... supravalvular aortic stenosis.
@en
Fluorescent in situ hybridisation
@nl
type
label
Fluorescent in situ hybridisat ...... supravalvular aortic stenosis.
@en
Fluorescent in situ hybridisation
@nl
prefLabel
Fluorescent in situ hybridisat ...... supravalvular aortic stenosis.
@en
Fluorescent in situ hybridisation
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Fluorescent in situ hybridisat ...... supravalvular aortic stenosis.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932