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Results 1 - 10 of 26 for Malformation of cortical development
  1. ... the brain (the cortex), which are classified as malformations of cortical development. These individuals do not have problems with extraocular ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ...
  2. ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ... Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A( ...
  3. ... AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. ...
  4. ... spectrum of neurological disorders that result from abnormal development of the brain. This spectrum includes focal cortical dysplasia, which is characterized by malformation of the outer surface of the brain (the ...
  5. ... condition characterized by a pattern of abnormal brain development known as ... severe intellectual disability, developmental delay, seizures, abnormal ...
  6. ... hamartin in different types of cells disrupts normal development and leads to the growth ... This disorder involves malformations of the cerebrum, the large, frontal part of ...
  7. ... Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25;62(10):1722-8. ... syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; ...
  8. ... Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Genetic Testing Registry: Microcephaly 3, primary, autosomal recessive ...
  9. ... S, Kauffman MA. Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration ... Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Mol Syndromol. 2016 ... PubMed or Free article on PubMed Central
  10. ... Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease. Scientifica (Cairo). 2012;2012:480129. doi: ...
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