Session

17.03.2022     15:00–15:45

Titel:
Poster Session
ClinG
Art:
Poster
Raum:
Room 7-9

17.03.2022
15:00–15:45

Titel:
Poster Session
ClinG
Art:
Poster
Raum:
Room 7-9
15:00–15:02
P-ClinG-039 A rare case of a 7-year-old boy with severe hemophilia A and moyamoya caused by Xq28 deletion
Suzette Block (Hamburg/DE)
Redezeit: 2 min

15:02–15:04
P-ClinG-041 Broadening the phenotypic and molecular spectrum of LOX associated aortopathy
Felix Boschann (Berlin/DE)
Redezeit: 2 min

15:04–15:06
P-ClinG-043 POU3F3-associated neurodevelopmental disorder due to deletion 2q12.1
Anna Lena Burgemeister (Stuttgart/DE)
Redezeit: 2 min

15:06–15:08
P-ClinG-047 Au-Kline Syndrome: Clinical presentation of three patients
Magdalena Danyel (Berlin/DE)
Redezeit: 2 min

15:08–15:10
P-ClinG-049 Diagnostic RFC1 fragment length analysis in 372 patients with suspected CANVAS disease
Claudia Dufke (Tübingen/DE)
Redezeit: 2 min

15:10–15:12
P-ClinG-053 "Pan-Nephro" comprehensive genetic testing for all kidney diseases: Premium performance in difficult-to-target regions – Quality is key
Valeska Frank (Mainz/DE)
Redezeit: 2 min

15:12–15:14
P-ClinG-057 Fourth Patient With Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria Caused By A Recurrent IDH1 Mosaic Mutation
Bianca Greiten (Lübeck/DE)
Redezeit: 2 min

15:14–15:16
P-ClinG-059 Identification of novel causes of autosomal recessive neurodevelopmental disorders in a large cohort of multiplex families from Turkey
Esen Gümüslü (Erlangen/DE)
Redezeit: 2 min

15:16–15:18
P-ClinG-061 INPP4A-related genetic and phenotypic spectrum
Laura Hecher (Hamburg/DE)
Redezeit: 2 min

15:18–15:20
P-ClinG-063 Haplotype assembly – estimations from amplicon-based ONT Long-Read Sequencing
Charlotte Hewel (Mainz/DE), Matthias Linke (Mainz/DE)
Redezeit: 2 min

15:20–15:22
P-ClinG-065 NSDHL mutation as a rare cause of fetal cortical malformation
Alrun Hotz (Freiburg/DE)
Redezeit: 2 min

15:22–15:24
P-ClinG-067 Supplementing evidence for novel disorders through routine diagnostics
Robin-Tobias Jauss (Leipzig/DE)
Redezeit: 2 min

15:24–15:26
P-ClinG-069 Compound heterozygous variants in spart cause mitochondrial dysfunction and cell cycle arrest associated with troyer syndrome
Antje Kampmeier (Essen/DE)
Redezeit: 2 min

15:26–15:28
P-ClinG-071 Detection of pathogenic variants in the SMN1 locus on short-read-sequencing using an SMN1 specific workflow
Stephanie Kleinle (München/DE)
Redezeit: 2 min