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Online Ressourcen 41 Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
Smogavec, Mateja. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Online Ressourcen 42 Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Mauri, Lucia. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Online Ressourcen 43 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Mignot, Cyril. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Online Ressourcen 44 Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus
Hauser, Michael A.. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Online Ressourcen 45 Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment
Ahmed, Iltaf. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Online Ressourcen 46 Rare Copy Number Variants Are a Common Cause of Short Stature
Zahnleiter, Diana. - Würzburg : Universität Würzburg, 2016
Online Ressource
Online Ressourcen 47 SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
Buchert, Rebecca. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Online Ressourcen 48 The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova, Eva. - Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016
Online Ressource
Artikel 49 Stainless Steel Plate Girders Subjected to Shear Buckling at Normal and Elevated Temperatures
Enthalten in Fire technology 8.6.2016: 1-29
Online Ressource
Artikel 50 α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy
Enthalten in Acta neuropathologica 8.4.2016: 1-17
Online Ressource


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