| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
16.03.2022 12:00–13:00 |
|
Möglichkeiten der genetischen Testung am Beispiel der seltenen Erkrankung AADC-Mangel
Redezeit: 60 min in Session: Technical Workshop PTC Therapeutics Germany GmbH Möglichkeiten der genetischen Testung am Beispiel der seltenen Erkrankung AADC-Mangel |
| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
15:10–15:12 |
P-ClinG-083 |
Bilateral retinal detachment, myopia and nephropathy in a girl with biallelic pathogenic LAMB2 variants: clinical spectrum of LAMB2-related disorders | ||
|
17.03.2022
15:10–15:12 |
P-ClinG-053 |
"Pan-Nephro" comprehensive genetic testing for all kidney diseases: Premium performance in difficult-to-target regions – Quality is key | ||
|
18.03.2022
11:50–11:52 |
P-ClinG-050 |
Optimized clinical exome design to analyse complex genetic regions covering all inherited eye diseases and retinal dystrophies |