Search filters

List of works by Michèl A A P Willemsen

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

scientific article published on 23 March 2017

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

scientific article

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

scientific article published on 18 June 2020

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

scientific article published in March 2012

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in MED12 cause X-linked Ohdo syndrome

scientific article published on 7 February 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

scientific article

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity

scientific article published on 17 November 2020

Variants in CUL4B are associated with cerebral malformations

scientific article

Paulina is supported by:

About Paulina

Help