Session

18.03.2022     11:40–12:30

Titel:
Poster Session
MonoG
Art:
Poster
Raum:

18.03.2022
11:40–12:30

Titel:
Poster Session
MonoG
Art:
Poster
Raum:

11:40–11:42
P-MonoG-140 In vitro analysis of a novel TECTA splice site variant causing hearing loss in two independent Iranian families
Daniel Bengl (97074/DE)
Redezeit: 2 min


11:42–11:44
P-MonoG-142 Further delineation of the ZNF292-associated phenotypic spectrum
Miriam Bertrand (Tübingen/DE)
Redezeit: 2 min


11:44–11:46
P-MonoG-144 WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly
Nina Bögershausen (Göttingen/DE)
Redezeit: 2 min


11:46–11:48
P-MonoG-148 The piRNA biogenesis pathway is a major target for impaired spermatogenesis and male infertility
Clara Bühlmann (Münster/DE)
Redezeit: 2 min


11:48–11:50
P-MonoG-150 Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
Jasmina Ćomić (München/DE)
Redezeit: 2 min


11:50–11:52
P-MonoG-154 A new variant in ACTN2 in a patient with slowly progressive proximal myopathy
Helene Faust (Leipzig/DE)
Redezeit: 2 min


11:52–11:54
P-MonoG-156 Longitudinal blood-based RNASeq analyses in Spinocerebellar Ataxia Type 3
Jeannette Hübener-Schmid (Tübingen/DE)
Redezeit: 2 min


11:54–11:56
P-MonoG-158 Influence of Cyp46A1 on the pathogenesis of SCA3
Thorsten Schmidt (Tübingen/DE), Jaqueline Jung (Tübingen/DE)
Redezeit: 2 min


11:56–11:58
P-MonoG-160 EVPL is a novel candidate gene for dentin dysplasia typ I
Juliane Köhler (Kiel/DE)
Redezeit: 2 min


11:58–12:00
P-MonoG-162 Autoantibody profiling of patients with systemic autoinflammatory diseases
Julie Krainer (Wien/AT)
Redezeit: 2 min


12:00–12:02
P-MonoG-164 Novel molecular insights into the DHX30-associated neurodevelopmental disorders
Johannes Lederbauer (Hamburg/DE)
Redezeit: 2 min


12:02–12:04
P-MonoG-166 Detailed analysis of Tnap function in zebrafish paves the way for establishment of a new in vivo model constituting the rare disease hypophosphatasia
Daniel Liedtke (Würzburg/DE)
Redezeit: 2 min


12:04–12:06
P-MonoG-168 Phenotypic characterization of individuals with a PRKAR1B-associated neurodevelopmental disorder
Felix Marbach (Heidelberg/DE)
Redezeit: 2 min


12:06–12:08
P-MonoG-170 De novo variants in ATP2B1 lead to neurodevelopment delay
Henry Oppermann (Leipzig/DE)
Redezeit: 2 min


12:08–12:10
P-MonoG-176 Posterior lissencephaly caused by domain specific missense-variants in CEP85L
Isabell Schumann (Leipzig/DE)
Redezeit: 2 min


12:10–12:12
P-MonoG-178 Human models for White Sutton syndrome: POGZ mutations change the transcriptome and induce defects in neural progenitor cell biology
Azza Soliman (Mainz/DE)
Redezeit: 2 min


12:12–12:14
P-MonoG-180 Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
Amelie van der Ven (Hamburg/DE)
Redezeit: 2 min


12:14–12:16
P-MonoG-184 Lost in promiscuity: Evolutionary and disease-related aspects of the proposed cardiolipin cleaving function of HSD10
Yvonne Wohlfarter (Innsbruck/AT)
Redezeit: 2 min


12:16–12:18
P-MonoG-152 Novel luciferase reporter assay for functional characterisation of male infertility-associated DMRT1 variants
Jana Emich (Münster/DE)
Redezeit: 2 min