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Introduction: Brain malformations.

Introduction: Brain malformations.

http://www.wikidata.org/entity/Q38213961

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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Cellular and molecular introduction to brain development KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

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Introduction: Brain malformations.

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Introduction: Brain malformations.

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Introduction: Brain malformations.

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Introduction: Brain malformations.

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

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Introduction: Brain malformations.

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Alex R Paciorkowski

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Ghayda M Mirzaa

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P2860

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

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LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

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scholarly article

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10.1002/AJMG.C.31404

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2014-05-22T00:00:00Z

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