List of works by Marloes Steehouwer

A de novo paradigm for mental retardation.

scientific article published on 14 November 2010

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

Cantú syndrome is caused by mutations in ABCC9.

scientific article

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

scientific article

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

scientific article published on 24 February 2016

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

scientific article

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

scientific article

Mobster: accurate detection of mobile element insertions in next generation sequencing data

scientific article

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

scientific article published on 10 March 2016

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

scientific article

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

scientific article published on 10 February 2015

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