| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
15:06–15:08 |
P-Compl-119 |
Search for exonic homozygous/compound heterozygous variants in affected sib-pairs identifies novel candidate genes for nonsyndromic cleft palate | ||
|
17.03.2022
15:10–15:12 |
P-Compl-123 |
Single-cell based transcriptional differences between candidate genes for syndromic and non-syndromic cleft lip with or without cleft palate | ||
|
17.03.2022
15:16–15:18 |
P-ClinG-089 |
Deep intronic de novo germline EHMT1 variant in a patient with syndromic developmental delay | ||
|
17.03.2022
15:28–15:30 |
P-Techno-203 |
Identification of rare variants for nonsyndromic cleft lip with/without cleft palate in a cohort of multiplex families | ||
|
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 |