GfH 2022
16.03.
17.03.
18.03.
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Session
Programm
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Session
17.03.2022 10:00–11:30
Titel:
Workshop 2
Neurodevelopmental Disorders
Art:
Workshop
Raum:
Room 5+6
Moderation:
Mert Karakaya (Köln/DE)
,
Gökhan Yigit (Göttingen/DE)
17.03.2022
10:00–11:30
Titel:
Workshop 2
Neurodevelopmental Disorders
Art:
Workshop
Raum:
Room 5+6
Moderation:
Mert Karakaya (Köln/DE)
,
Gökhan Yigit (Göttingen/DE)
10:00–10:15
W2-001
De novo
variants in the PABP-domain of
PABPC1
lead to developmental delay
Meret Wegler (Leipzig/DE)
Redezeit: 15 min
10:15–10:30
W2-002
FBXO11
haploinsufficiency also stems from
de novo
missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model
Anne Gregor (Bern/CH)
Redezeit: 15 min
10:30–10:45
W2-003
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
Barbara Vona (Göttingen/DE)
Redezeit: 15 min
10:45–11:00
W2-004
Gene burden analysis identifies
UCHL1
as a novel cause of autosomal dominant neurodegeneration with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park (Tübingen/DE)
Redezeit: 15 min
11:00–11:15
W2-005
SKI
haploinsufficiency causes a neurodevelopmental disorder
Arne Jahn (Dresden/DE)
Redezeit: 15 min
11:15–11:30
W2-006
Biallelic variants in
PCDHGC4
cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Gökhan Yigit (Göttingen/DE)
Redezeit: 15 min
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