| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
18.03.2022 11:46–11:48 |
P-ClinG-046 |
Unexpected Array CGH result in a patient with leading symptom ocular coloboma
Redezeit: 2 min in Session: Poster Session ClinG 2 |
| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
15:16–15:18 |
P-ClinG-089 |
Deep intronic de novo germline EHMT1 variant in a patient with syndromic developmental delay | ||
|
18.03.2022
11:46–11:48 |
P-ClinG-046 |
Unexpected Array CGH result in a patient with leading symptom ocular coloboma | ||
|
18.03.2022
11:54–11:56 |
P-ClinG-088 |
How DeepGestalt triggered WES re-analysis and led to the identification of a KANSL1 intragenic deletion causing Koolen-de Vries syndrome |