P193-NPC1
Niemann-Pick type C disease (NPC)
|
P343-Autism-1
Autism
|
P374-Microdeletion-8
Microdeletion follow-up
|
P333-EP300
Rubinstein–Taybi syndrome (RSTS)
|
P373-Microdeletion-7
Microdeletion follow-up
|
P372-Microdeletion-6
Microdeletion follow-up
|
P371-Microdeletion-5
Microdeletion follow-up
|
P311-CHD
Congenital Heart Disease (CHD)
|
P284-RBM14-11q13
Tumour analysis
|
P278-PCCA
Propionic acidemia
|
P309-MTM1
Myotubular myopathy, x-linked (XLMTM)
|
P223-PHEX
Hypophosphatemia, x-linked
|