Yntema, H.G.

patient deletion mutation syndrome ehmt 1 gene genet feature article retardation phenotype month protein cysteine subtelomeric genetic ehmt 1 mutations figure radboud university nijmegen defect birth weight table intragenic analysis 9 qstds hospital study neurofibromatosi domain university birth cryptorchidism jmg.bmj.com ehmt 1 nijmegen noonan downloaded behaviour 1042tyr result weight group.bmj.com probe department subtelomere cohort chromosome characteristic childhood nf 1 gene change 9 q deletions age 7 years 9 q deletion ehmt 1 haploinsufficiency diagnosis heart defects criteria array probe amplification childhood obesity 10 years novel epilepsy structure variant regression hypoplasia reflux function obesity kleefstra histone children multiplex ligation mlpa /fish results neurofibromatosis-noonan syndrome bipolar mood disorder cluster core phenotype van der burgt