Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients - Test2 - elhamkhani - TriplyDB

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

http://www.wikidata.org/entity/Q31141777

about

Zeb2 is a negative regulator of midbrain dopaminergic axon growth and target innervation.A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

http://www.wikidata.org/entity/Q31141777

description

2016 nî lūn-bûn

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2016 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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name

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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type

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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Genetics in Medicine

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

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Alessandro Iodice

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Alex R Paciorkowski

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Allan Bayat

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Angelo Selicorni

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Baris Malbora

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Francesca Faravelli

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Goran Cuturilo

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P2860

Mowat-Wilson syndrome

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Mowat-Wilson syndrome

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

Sip1 downstream Effector ninein controls neocortical axonal growth, ipsilateral branching, and microtubule growth and stability

Smad-interacting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and controls its formation

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

Complete reversal of epithelial to mesenchymal transition requires inhibition of both ZEB expression and the Rho pathway

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691-700

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scholarly article

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10.1038/GIM.2016.176

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6

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19

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William B. Dobyns

Elvis Terci Valera

Bert Callewaert

Lorenzo Iughetti

Duccio M. Cordelli

Sébastien Moutton

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2016-11-10T00:00:00Z

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1026517541

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27831545

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