Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

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http://www.wikidata.org/entity/Q30726699
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Microtubule dynamics in axon guidance.The genetics of the epilepsies.I-PV: a CIRCOS module for interactive protein sequence visualization.The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1
P2860

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Item
http://www.wikidata.org/entity/Q30726699
description
2014 nî lūn-bûn
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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին 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
Brain malformations and mutati ...... description of two new cases.
@ast
Brain malformations and mutati ...... description of two new cases.
@en
type
label
Brain malformations and mutati ...... description of two new cases.
@ast
Brain malformations and mutati ...... description of two new cases.
@en
prefLabel
Brain malformations and mutati ...... description of two new cases.
@ast
Brain malformations and mutati ...... description of two new cases.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Brain malformations and mutati ...... d description of two new cases
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698