Kitiwan Rojnueangnit

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype…

Human Mutation · 2015 · First of 73 authors · 146 citations

Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation

Case report · Clinical Dysmorphology · 2014 · 27 citations