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Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1182 - 1195
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2019, Volume 181, Issue 4, pp. 582 - 590
Megalencephaly (MEG) is a developmental abnormality of brain growth characterized by early onset, often progressive, brain overgrowth. Focal forms of... 
megalencephaly | PIK3R2 | PIK3CA | MTOR | AKT3
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 156 - 172
Journal Article
Human Genetics, ISSN 0340-6717, 8/2014, Volume 133, Issue 8, pp. 1023 - 1039
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 117 - 123
This issue of the American Journal of Medical Genetics Seminar Series Part C is dedicated to congenital brain malformations with a special focus on the... 
brain malformations | review | genetics | Brain malformations | Genetics | Review | MENTAL-RETARDATION | CONFIRMATION | PHENOTYPE | MODEL | HETEROTOPIA | DISEASE | GENETICS & HEREDITY | HYPOPLASIA | DISORDER | LIS1 | MUTATIONS | Animals | Brain - abnormalities | Nervous System Malformations - genetics | Humans | Genetic disorders | Medical genetics
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2014, Volume 9, Issue 12, p. e114903
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1473 - 1488
Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral... 
lissencephaly | tubulinopathy | classification | agyria | subcortical band heterotopia | pachygyria | OSTEODYSPLASTIC PRIMORDIAL DWARFISM | MILLER-DIEKER SYNDROME | CORTICAL DEVELOPMENT | INTELLECTUAL DISABILITY | MUTATIONS CAUSE | CORPUS-CALLOSUM | GENETICS & HEREDITY | MOLECULAR-BASIS | NEURONAL MIGRATION DEFECTS | CEREBELLAR HYPOPLASIA | Microtubule-Associated Proteins - genetics | Humans | Child, Preschool | Infant | Male | Lissencephaly - classification | Lissencephaly - diagnostic imaging | Cerebral Cortex - physiopathology | Classical Lissencephalies and Subcortical Band Heterotopias - diagnostic imaging | Young Adult | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Lissencephaly - physiopathology | Adult | Female | Neuropeptides - genetics | Child | Infant, Newborn | Classical Lissencephalies and Subcortical Band Heterotopias - genetics | Cerebral Cortex - diagnostic imaging | Classical Lissencephalies and Subcortical Band Heterotopias - physiopathology | Magnetic Resonance Imaging | Phenotype | Adolescent | Lissencephaly - genetics | Mutation | Classical Lissencephalies and Subcortical Band Heterotopias - classification | Medical genetics | Neuroimaging | Leukocyte migration | Lissencephaly | Subcortical band heterotopia | Cortex | Classification | Doublecortin protein | Genetic counselling | Cell migration | Genetic screening | Agyria
Journal Article