| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
18.03.2022 11:56–11:58 |
P-ClinG-056 |
BCORL1 variant in two male fetuses with multiple ultrasonographic abnormalities
Redezeit: 2 min in Session: Poster Session ClinG 2 |
||
|
18.03.2022 12:06–12:08 |
P-ClinG-066 |
Novel OTUD5 variant detected in a patient with multiple congenital anomalies-neurodevelopmental syndrome and suggested in a fetus in the same family
Redezeit: 2 min in Session: Poster Session ClinG 2 |
| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
15:12–15:14 |
P-ClinG-057 |
Fourth Patient With Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria Caused By A Recurrent IDH1 Mosaic Mutation | ||
|
18.03.2022
11:44–11:46 |
P-MonoG-144 |
WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly | ||
|
18.03.2022
11:56–11:58 |
P-ClinG-056 |
BCORL1 variant in two male fetuses with multiple ultrasonographic abnormalities | ||
|
18.03.2022
12:00–12:02 |
P-ClinG-060 |
Two sisters with a novel homozygous pathogenic variant in PSAP causing metachromatic leukodystrophy | ||
|
18.03.2022
12:06–12:08 |
P-ClinG-066 |
Novel OTUD5 variant detected in a patient with multiple congenital anomalies-neurodevelopmental syndrome and suggested in a fetus in the same family |