| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
18.03.2022 12:08–12:10 |
P-ClinG-068 |
PHIP-associated Chung-Jansen syndrome: report of 14 new individuals
Redezeit: 2 min in Session: Poster Session ClinG 2 |
| Zeit | Titel der Session | |||
|---|---|---|---|---|
|
17.03.2022
10:00 – 11:30 |
Workshop 3
Clinical Genetics |
| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
10:15–10:30 |
W2-002 |
FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model | ||
|
17.03.2022
15:24–15:26 |
P-ClinG-069 |
Compound heterozygous variants in spart cause mitochondrial dysfunction and cell cycle arrest associated with troyer syndrome | ||
|
18.03.2022
11:42–11:44 |
P-BasEpi-004 |
The importance of considering highly confined tissue-specific mosaicism in Beckwith-Wiedemann syndrome | ||
|
18.03.2022
11:42–11:44 |
P-MonoG-142 |
Further delineation of the ZNF292-associated phenotypic spectrum | ||
|
18.03.2022
12:06–12:08 |
P-ClinG-100 |
Severe unilateral hand malformation and cholesteatoma in a boy with Helsmoortel-Van der Aa syndrome | ||
|
18.03.2022
12:08–12:10 |
P-ClinG-068 |
PHIP-associated Chung-Jansen syndrome: report of 14 new individuals |