Studi Kerolasi Gen Penyandi Hyaluroniase dengan Kecenderungan Menderita Penyakit Katarak

Mutasi gen cyp21 dan profil klinis anak dengan hiperplasia adrenal kongenital = Cyp21 mutation and clinical manifestation in children with congenital adrenal hyperplasia

Analisis mutasi gen PTS pada ekson 1 dan ekson 3--4 dari penderita defisiensi enzim 6-pyruvoyl tetrahydropterin synthase (PTPS)di Indonesia = Mutation analysis of PTS gene exon 1 and exon 3-4 from 6-pyruvoyl tetrahydropterin synthase PTPS enzyme deficiency patient in Indonesia

Deteksi delesi/large gene conversion dan mutasi titik kodon 172 gen CYP21 pada hiperplaisa adrenal kongenital

Analisis mutasi ekson 2 dan ekson 5--6 gen PTS pada penderita defisiensi enzim 6-pyruvoyl tetrahydropterin synthase (PTPS) di Indonesia = Mutation analysis for exon 2 and exon 5--6 of PTS gene on 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency patient in Indonesia