about
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityWhole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20Deletions and loss-of-function variants in TP63 associated with orofacial cleftingPEDIA: prioritization of exome data by image analysisMaternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
P50
Q47286401-BF409FB1-CA09-42BB-98EA-2B6E9D386EC5Q47550402-7EB1ED14-EBC1-4B9D-88CB-A0616FE2F223Q48190841-591710D6-965A-4A18-B738-F6862764AE12Q57021667-EC90AD82-C04B-4CAB-9511-BD02772CB3F5Q90476267-33E8C1EE-2085-4E97-ABAD-E0C319EE8A0EQ92237167-E2C39FE5-F2B8-411F-9388-21B4DEF091C7Q92526174-A2ED684E-9D0B-42A0-A18B-B4D2AFC0B11AQ92734270-C68D9095-A2B0-49FB-BDA1-30799E2349DE
P50
description
researcher
@en
name
Koenraad Devriendt
@en
type
label
Koenraad Devriendt
@en
prefLabel
Koenraad Devriendt
@en
P31
P496
0000-0002-3651-2548