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The Genetics of Brain Malformations

The Genetics of Brain Malformations

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The Genetics of Brain Malformations

http://www.wikidata.org/entity/Q57252972

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article

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2015

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The Genetics of Brain Malformations

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The Genetics of Brain Malformations

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The Genetics of Brain Malformations

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The Genetics of Brain Malformations

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The Genetics of Brain Malformations

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The Genetics of Brain Malformations

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9781118524947.CH7

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The Genetics of Brain Malformations

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Christopher A. Walsh

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M. Chiara Manzini

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Identification of microcephalin, a protein implicated in determining the size of the human brain

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

STIL is required for centriole duplication in human cells

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

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129-154

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scholarly article

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10.1002/9781118524947.CH7

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P577

2015-07-24T00:00:00Z

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