Prof.dr. B.C.J. Hamel

Update Persondata

• acid
• agenesis
• beta
• cardiac
• chromosome
• clinical
• disease
• expression
• gene
• genes
• genetics
• liquid
• muscle
• mutations
• patients
• protein
• renal
• signaling

Active as

Publications

(the most recent at the top)

The clinical spectrum of complete FBN1 allele deletions.

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

All publications..

Completed research projects

(the most recent research is at the top)
Project leader	The influence of extracellular matrix pathology on the muscular function: Ehlers-Danlos syndrome as a model
Project leader	Clinical and molecular genetic studies in hereditary hair loss

Classification

D21400	Genetics