Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

Eitemau Tebyg

• A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
  gan: Miroslava Hancarova, et al.
  Cyhoeddwyd: (2019-09-01)
• A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
  gan: Hancarova, Miroslava, et al.
  Cyhoeddwyd: (2019)
• Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics
  gan: Prochazkova, Kamila, et al.
  Cyhoeddwyd: (2019)
• A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
  gan: Drabova, Jana, et al.
  Cyhoeddwyd: (2014)
• Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
  gan: Musova, Zuzana, et al.
  Cyhoeddwyd: (2016)