Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour
about
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyMosaic structural variation in children with developmental disordersClinical utility gene card for: Beckwith-Wiedemann Syndrome.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
P2860
Q28079403-22244402-AD1C-4458-AA0F-21CE3F3F925AQ28392317-41F7823B-347B-469F-B9EF-BCBABC66D59AQ37585831-9758BE75-4FDE-4CE2-981C-5A6C1330C886Q39224908-A38CE3F7-D373-4256-8628-8A32414E2024Q42377406-3B6D1AF2-5F63-45C1-98EE-92C4B7019320Q48510862-C0459164-1B9E-4DF1-A90A-B8D2E50EDF9FQ50531355-24AF1A23-E60C-4327-BE7B-AA61417EE923Q53100680-31AB2D88-50FC-4F2A-922F-F6B8A99DFD8CQ53404155-E892EF2D-12D0-4BC6-89CB-1AA7815FC207
P2860
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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2012年學術文章
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2012年學術文章
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name
Genome-wide paternal uniparent ...... nd ovarian steroid cell tumour
@en
Genome-wide paternal uniparent ...... d ovarian steroid cell tumour.
@nl
type
label
Genome-wide paternal uniparent ...... nd ovarian steroid cell tumour
@en
Genome-wide paternal uniparent ...... d ovarian steroid cell tumour.
@nl
prefLabel
Genome-wide paternal uniparent ...... nd ovarian steroid cell tumour
@en
Genome-wide paternal uniparent ...... d ovarian steroid cell tumour.
@nl
P2093
P2860
P356
P1476
Genome-wide paternal uniparent ...... nd ovarian steroid cell tumour
@en
P2093
Gertrud Strobl-Wildemann
Lukas Soellner
Magdalena Gogiel
Matthias Begemann
Sabrina Spengler
Thomas Eggermann
Ulf Göretzlehner
P2860
P2888
P304
P356
10.1038/EJHG.2012.259
P577
2012-11-28T00:00:00Z