| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
10:15–10:30 |
W3-002 |
More than 800 cases – an update on prenatal trio exome analyses | ||
|
17.03.2022
15:02–15:04 |
P-ClinG-041 |
Broadening the phenotypic and molecular spectrum of LOX associated aortopathy | ||
|
18.03.2022
11:44–11:46 |
P-MonoG-144 |
WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly | ||
|
18.03.2022
11:54–11:56 |
P-ClinG-054 |
Increased nuchal translucency (NT). Can we do more? Prenatal trio exome sequencing revealed unexpected findings in fetuses with increased NT | ||
|
18.03.2022
12:12–12:14 |
P-ClinG-108 |
Diagnostic yield of genetic testing in patients with inherited eye diseases using virtual gene panel analysis | ||
|
18.03.2022
14:00–14:15 |
W7-001 |
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia (COMA) |