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History (14)
Meeting Report and Perspectives: The 5th Annual Midwest Conference on Cell Therapy and Regenerative Medicine.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Effects of double UVB-irradiations with different intervals on the dorsal skin of wistar-derived hypotrichotic WBN/ILA-Ht rats.
PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
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Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet. 2018 08; 26(8):1132-1142.
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PubMed
subject areas
Adolescent
Adult
Brain
Child
Cognitive Dysfunction
Female
Heterozygote
Humans
Lissencephaly
Male
Microcephaly
Mutation, Missense
Phenotype
Syndrome
Tubulin
authors with profiles
William B. Dobyns