Filtros de búsqueda

Lista de obras de Eric Haan

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

artículo científico publicado en 2010

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

artículo científico publicado en 2003

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

artículo científico publicado en 2015

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Lamin A/C mutation: An easily missed opportunity.

artículo científico publicado en 2014

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy

artículo científico publicado en 2014

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda