| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
18.03.2022
11:12–11:15 |
P-MonoG-146 |
Diagnostic yield of trio genome sequencing as first-tier analysis for rare diseases | ||
|
18.03.2022
12:08–12:10 |
P-ClinG-068 |
PHIP-associated Chung-Jansen syndrome: report of 14 new individuals | ||
|
18.03.2022
12:10–12:12 |
P-ClinG-070 |
Diagnosis of congenital contractural arachnodactyly (CCA) in a 12-year-old boy by clinical score and a novel de novo missense variant in FBN2 |