Suchergebnisse - "Biskup, Saskia"

PubPharm (464)

1

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

enthalten in: HGG advances | 2024

von Ansari, M. | Faour, K. | Shimamura, A. | +53

UpdateOf: medRxiv. 2023 Sep 28;:. - PMID 37808847

2

Case Report : Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 Therapy

enthalten in: Vaccines | 2024

von Zelba, H. | Kyzirakos, C. | Kayser, S. | +12

3

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

enthalten in: European journal of human genetics : EJHG | 2024

von Sajan, S. | Gradisch, R. | Vogel, F. | +21

4

First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure

enthalten in: Cell | 2024

von Zwirner, S. | Abu Rmilah, A. | Klotz, S. | +40

5

A second hotspot for pathogenic exon-skipping variants in CDC45

enthalten in: European journal of human genetics : EJHG | 2024

von Schoch, K. | Ruegg, M. | Fellows, B. | +12

6

Treatment of AICA ribosiduria by suppression of de novo purine synthesis

enthalten in: Molecular genetics and metabolism | 2024

von Park, J. | Och, U. | Braun, T. | +5

7

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID) : a prospective cohort study

enthalten in: The Lancet. Haematology | 2024

von Hägele, P. | Staus, P. | Scheible, R. | +127

ErratumIn: Lancet Haematol. 2024 Feb 16;:. - PMID 38373427

8

The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma

enthalten in: Nature communications | 2024

von Spahn, S. | Kleinhenz, F. | Shevchenko, E. | +16

9

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing

enthalten in: The Journal of allergy and clinical immunology | 2024

von Rensing-Ehl, A. | Lorenz, M. | Führer, M. | +42

10

Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy Samples

enthalten in: The Journal of molecular diagnostics : JMD | 2024

von Harter, J. | Buth, E. | Johaenning, J. | +6

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