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Hebebrand, Moritz ; Hüffmeier, Ulrike ; Trollmann, Regina ; Hehr, Ute ; Uebe, Steffen ; Ekici, Arif B. ; Kraus, Cornelia ; Krumbiegel, Mandy ; Reis, André ; Thiel, Christian T. ; Popp, Bernt

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B. , Kraus, Cornelia, Krumbiegel, Mandy, Reis, André , Thiel, Christian T. and Popp, Bernt (2019) The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases 14 (1).

Date of publication of this fulltext: 03 Sep 2021 10:04
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Item typeArticle
Journal or Publication TitleOrphanet Journal of Rare Diseases
Publisher:BMC
Place of Publication:LONDON
Volume:14
Number of Issue or Book Chapter:1
Date2019
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1186/s13023-019-1020-xDOI
KeywordsABNORMAL NEURONAL MIGRATION; TUBA1A MUTATION; CORTICAL DEVELOPMENT; CORPUS-CALLOSUM; WIDE SPECTRUM; ALPHA; BRAIN; MALFORMATIONS; MECHANISMS; DATABASE; TUBA1A; Tubulin; Tubulinopathy; Lissencephaly; Brain malformation; Microcephaly; Developmental delay; Human phenotype ontology
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID48986

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