Maja Hempel

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Abstracts (Beteiligung als Autor)
Zeit ID Programmpunkt  
17.03.2022
15:06–15:08 		P-ClinG-079 
 Critically ill newborn with multiple non-specific abnormalities – diagnosis of Pallister-Killian syndrome by next generation sequencing
17.03.2022
15:10–15:12 		P-ClinG-083 
 Bilateral retinal detachment, myopia and nephropathy in a girl with biallelic pathogenic LAMB2 variants: clinical spectrum of LAMB2-related disorders
17.03.2022
15:18–15:20 		P-MonoG-165 
 Aberrant cell-death response switch in a novel syndrome characterized by intrauterine multisystem anomalies and early demise
17.03.2022
16:30–16:45 		W6-003 
 Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
17.03.2022
17:00–17:15 		W6-005 
 Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
18.03.2022
12:02–12:04 		P-ClinG-062 
 Baraitser-Winter-Cerebrofrontofacial Syndrome 2 with early onset severe autistic behavior: A case report
18.03.2022
12:12–12:14 		P-MonoG-180 
 Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease