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Lista de obras de Leopold M G Curfs

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration

artículo científico publicado en 2021

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome

artículo científico publicado en 2019

Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting

artículo científico publicado en 2016

Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

artículo científico publicado en 2020

Elimination disorders in persons with Prader–Willi and Fragile‐X syndromes ⬇️

artículo científico publicado el 12 de diciembre de 2012

Extracellular Vesicles in CNS Developmental Disorders

artículo científico publicado en 2020

History of rare diseases and their genetic causes - a data driven approach

Incontinence and psychological symptoms in Phelan-McDermid syndrome

scientific article published on 29 October 2019

Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome

artículo científico publicado en 2017

Incontinence in children, adolescents and adults with Williams syndrome

artículo científico publicado en 2015

Incontinence in persons with Down Syndrome

artículo científico publicado en 2016

Incontinence in persons with Noonan Syndrome

artículo científico publicado en 2015

Incontinence in persons with fetal alcohol spectrum disorders: a polish cohort

scientific article published on 26 March 2020

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

artículo científico publicado en 2019

Low maternal melatonin level increases autism spectrum disorder risk in children

artículo científico publicado en 2018

MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databases

artículo científico publicado en 2018

New insights in Rett syndrome using pathway analysis for transcriptomics data

artículo científico publicado en 2016

Nocturnal incontinence in children with fetal alcohol spectrum disorders (FASD) in a South African cohort

artículo científico publicado en 2017

Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders.

artículo científico publicado en 2018

Providing gene-to-variant and variant-to-gene database identifier mappings to use with BridgeDb mapping services

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes

artículo científico publicado en 2016

Worldwide Prevalence of Fetal Alcohol Spectrum Disorders: A Systematic Literature Review Including Meta-Analysis

artículo científico

[Formula: see text] Measuring visual matching and short-term recognition memory with the CANTAB® Delayed Matching to Sample task in schoolchildren: Effects of demographic influences, multiple outcome measures and regression-based normative data

scientific article published on 22 July 2019

A resource to explore the discovery of rare diseases and their causative genes

artículo científico publicado en 2021

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