Projects


 


SMCHD1 & Arhinia


Elabela

ELMO2 & VMOS Syndrome

NLRP1 & Multiple Self-healing Palmoplantar Carcinoma

TGFBR1 & Multiple Self-healing Squamous Epithelioma




P5CS & De Barsy Syndrome

DCPS & Al-Raqad Syndrome


KATNB1 & primary microcephaly 

C5orf42 and Oral-Facial-Digital Syndrome type VI





Dubowitz Syndrome
Mohr Syndrome
Matthew-Wood Syndrome