| Zeit | ID | Programmpunkt | ||
|---|---|---|---|---|
|
17.03.2022
14:27–14:30 |
P-ClinG-051 |
Long Read-Sequencing for RFC1 Repeat Analysis Reveals High Prevalence of Pathogenic Alterations in Ataxia Patients | ||
|
17.03.2022
15:12–15:14 |
P-ClinG-085 |
Chances of Genetic Counselling in Germany: experiences with Genetic Counsellors in everyday practice | ||
|
17.03.2022
15:26–15:28 |
P-ClinG-071 |
Detection of pathogenic variants in the SMN1 locus on short-read-sequencing using an SMN1 specific workflow | ||
|
17.03.2022
15:28–15:30 |
P-ClinG-107 |
O'Donnell-Luria-Rodan Syndrome - description of a second multinational cohort and refinement of the phenotypic spectru | ||
|
18.03.2022
11:52–11:54 |
P-CancG-016 |
A novel variant in PRKAR1A at the exon-intron border leads to aberrant splicing in patients affected by Carney complex | ||
|
18.03.2022
11:58–12:00 |
P-ClinG-058 |
A rare case of 3MC syndrome with thoracic aortic dissection | ||
|
18.03.2022
15:00–15:15 |
W8-005 |
Optical Mapping – Comprehensive Detection of structural genomic variants |