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List of works by Jeroen Schoots

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

scientific article

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

scientific article published on 01 August 2006

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

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