The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
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Navigating the Phenotype Frontier: The Monarch InitiativeNext-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.Diagnostic value of exome and whole genome sequencing in craniosynostosis.SnoN as a novel negative regulator of TGF-β/Smad signaling: a target for tailoring organ fibrosis.Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.Aetiology and management of hereditary aortopathy.LTBP3 promotes early metastatic events during cancer cell dissemination.Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2
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P2860
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
description
2014 nî lūn-bûn
@nan
2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@ast
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@en
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@nl
type
label
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@ast
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@en
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@nl
prefLabel
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@ast
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@en
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@nl
P2093
P2860
P50
P356
P1476
The SMAD-binding domain of SKI ...... Shprintzen-Goldberg syndrome.
@en
P2093
Alexander J Doyle
Anne Destrée
Anneke Maat-Kievit
Charles Marques Lourenco
Elizabeth Sparks
Emma Hobson
Gretchen Oswald
Hannah Titheradge
Harry C Dietz
P2860
P2888
P304
P356
10.1038/EJHG.2014.61
P577
2014-04-16T00:00:00Z