GfH 2022

Referate

	Zeit	ID	Programmpunkt
	18.03.2022 12:12–12:14	P-ClinG-072	SCN1A-associated arthrogryposis multiplex cogenita – two new patients Redezeit: 2 min in Session: Poster Session ClinG 2
	18.03.2022 14:00–14:15	W8-001	Deciphering the genomic and transcriptomic architecture of IGH::ZFP36L1 fusion in mature B cell malignancies with del(14)(q24q32) Redezeit: 15 min in Session: Workshop 8 (Epi-)Genomics and Cancer

Abstracts (Beteiligung als Autor)

Zeit	ID	Programmpunkt
17.03.2022 15:12–15:14	P-CancG-021	Identification of RAG1/RAG2- and AID-mediated recombination events in acute B-lymphoblastic leukemia with t(5;14)(q31.1;q32.3)/IL3-IGH-fusion
17.03.2022 15:12–15:14	P-ClinG-057	Fourth Patient With Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria Caused By A Recurrent IDH1 Mosaic Mutation
18.03.2022 11:48–11:50	P-Compl-120	SLC1A2 is a new candidate gene for neuromyelitis optica spectrum disorder
18.03.2022 11:56–11:58	P-MonoG-160	EVPL is a novel candidate gene for dentin dysplasia typ I
18.03.2022 11:56–11:58	P-ClinG-056	BCORL1 variant in two male fetuses with multiple ultrasonographic abnormalities
18.03.2022 12:00–12:02	P-ClinG-060	Two sisters with a novel homozygous pathogenic variant in PSAP causing metachromatic leukodystrophy
18.03.2022 12:06–12:08	P-ClinG-066	Novel OTUD5 variant detected in a patient with multiple congenital anomalies-neurodevelopmental syndrome and suggested in a fetus in the same family
18.03.2022 12:12–12:14	P-ClinG-072	SCN1A-associated arthrogryposis multiplex cogenita – two new patients
18.03.2022 14:00–14:15	W8-001	Deciphering the genomic and transcriptomic architecture of IGH::ZFP36L1 fusion in mature B cell malignancies with del(14)(q24q32)