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Epilepsia, ISSN 0013-9580, 05/2019, Volume 60, Issue 5, pp. 830 - 844
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 2018, Volume 156, Issue 1, pp. 14 - 21
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain... 
Array-CGH | Microdeletion | ULK4 gene | BRWD3 gene | Microduplication | GENE | GENETICS & HEREDITY | MUTATIONS | CELL BIOLOGY
Journal Article
Neuropediatrics, ISSN 0174-304X, 06/2018, Volume 49, Issue 3, pp. 217 - 221
Abstract Adams–Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb... 
Short Communication | DOCK6 | Adams-Oliver syndrome | AOS-variants | atypical absences | epileptic encephalopathy
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2019, Volume 50, Issue 5, pp. 327 - 331
Abstract The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related... 
Short Communication
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e28 - e28
Journal Article
Neuropediatrics, 06/2018, Volume 49, Issue 3, p. 217
Adams-Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb malformations... 
Journal Article
Territorio, ISSN 1825-8689, 2012, Volume 60, pp. 129 - 137
Journal Article
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