Lista de obras -

Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.

artículo científico publicado en 2018

Communication in Individuals with Rett Syndrome: an Assessment of Forms and Functions.

artículo científico publicado en 2009

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

artículo científico publicado en 2016

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

scientific article published on 07 December 2018

Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands

artículo científico publicado en 2015

Incontinence in Individuals with Rett Syndrome: A Comparative Study ⬇️

artículo científico publicado el 23 de febrero de 2012

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes

article

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes

artículo científico publicado en 2019

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

artículo científico publicado en 2006

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

scientific journal article

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. ⬇️

artículo científico publicado en 2016

New insights in Rett syndrome using pathway analysis for transcriptomics data

artículo científico publicado en 2016

Oculomotor Function in Individuals With Rett Syndrome

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

artículo científico publicado en 2017

Rett Syndrome as a Rare Disease: A European Perspective

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

artículo científico publicado en 2016

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

Rett syndrome and developmental regression

artículo científico publicado en 2019

Rett syndrome: A study of the face ⬇️

artículo científico publicado el 27 de mayo de 2011

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

artículo científico publicado en 2010

Lista de obras de

Abnormal Foot Position and Standing and Walking Ability in Rett Syndrome: an Exploratory Study.

Communication in Individuals with Rett Syndrome: an Assessment of Forms and Functions.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Eye Gaze Technology as a Form of Augmentative and Alternative Communication for Individuals with Rett Syndrome: Experiences of Families in The Netherlands

Incontinence in Individuals with Rett Syndrome: A Comparative Study ⬇️

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

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

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. ⬇️

New insights in Rett syndrome using pathway analysis for transcriptomics data

Oculomotor Function in Individuals With Rett Syndrome

Oculomotor Function in Individuals With Rett Syndrome

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Rett Syndrome as a Rare Disease: A European Perspective

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

Rett syndrome and developmental regression

Rett syndrome: A study of the face ⬇️

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.