Jan A. Fischer

Framework zur Bewertung von Open- und Closed-Source-LLMs in der Klassifikation von Nachrichtenmeldungen für das Supply-Chain-Riskmanagement

Axel Wagenitz, Christina Hofmann-Stölting, Pia Neumann, Jan A. Fischer

Diese Arbeit stellt ein Framework zur systematischen Vergleichsanalyse offener und proprietärer Large Language Models (LLMs) für die Relevanzklassifikation von Nachrichten im Supply-Chain-Risk-Management vor. Es ermöglicht Modellvergleiche ohne annotierte Referenzdaten und liefert quantitative und qualitative Einsichten in Konsistenz, Robustheit und Eignung verschiedener Modelle. …

Neuroserpin: A Potential Neuroprotective Agent in Mild Neonatal Hypoxic–Ischaemic Encephalopathy

Eri Kawashita, Yumi Fukuzaki, Jan A. Fischer, Lei Shi et autres

Neonatal hypoxic-ischaemic encephalopathy (HIE) remains a leading cause of infant morbidity and mortality worldwide, with therapeutic hypothermia being the only clinically approved treatment. This study investigates the cortical expression pattern of neuroserpin during postnatal brain development and evaluates its neuroprotective potential in …

jp, gb, us, cn (code pays fourni par la source)

Neuroserpin: A Potential Neuroprotective Agent in Mild Neonatal Hypoxic-Ischaemic Encephalopathy

Eri Kawashita, Yumi Fukuzaki, Jan A. Fischer, Lei Shi et autres

Neonatal hypoxic-ischaemic encephalopathy (HIE) remains a leading cause of infant morbidity and mortality worldwide, with therapeutic hypothermia being the only clinically approved treatment. This study investigates the cortical expression pattern of neuroserpin during postnatal brain development and evaluates its neuroprotective potential in …

jp, gb, us, cn, hk (code pays fourni par la source)

Corrigendum to “Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders” [Parkinson. Relat. Disord. (2025) 133 107319]

Antonia M. Stehr, Jan A. Fischer, Nazanin Mirza‐Schreiber, Katerina Bernardi et autres

The authors regret < that in the original version of our article one grant number was incorrect. The correct number is: grant AZV NW24-04-00067>. The authors would like to apologise for any inconvenience caused.

de, cz (code pays fourni par la source)

Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders

Antonia M. Stehr, Jan A. Fischer, Nazanin Mirza‐Schreiber, Katerina Bernardi et autres

INTRODUCTION: Variable expressivity is an emerging characteristic of KMT2B-related dystonia. However, it remains poorly understood whether variants reoccurring at specific sites of lysine-specific methlytransferase-2B (KMT2B) can drive intra- and interfamilial clinical heterogeneity. Our goal was to ascertain independent families with variants affecting …

de, it, cz (code pays fourni par la source)

Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

Jan A. Fischer, Marielle M. Alders, Marcel M. A. M. Mannens, David Geneviève et autres

Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern …

de, nl, fr, ca (code pays fourni par la source)

Contributors

Joseph C. Akunna, Anne Anstruther, Jan Biering, Chris A. Boulton et autres

cn, gb, de, sg, fi, jp (code pays fourni par la source)

Beer packaging: Microbiological–hazards and considerations

Jan A. Fischer, Jan Biering

Diagnostic value of low dose dobutamine stress echocardiography in paradoxical low flow low gradient aortic stenosis

Thomas Nowack, Krunoslav Michael Sveric, Johannes Mierke, F Ueberschaer et autres

Abstract Background In aortic stenosis with low-gradient scenarios distinguishing between fixed and pseudo-severe stenosis becomes challenging. Low-dose dobutamine stress echocardiography (DSE) is recommended for classical low-flow low- gradient stenosis with reduced ejection fraction. Doubts of DSE's utility in paradoxical low-flow low-gradient (PLFLG) …

de (code pays fourni par la source)

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva et autres

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific …

nl, ca, it, ch, es, de, hu, fr (code pays fourni par la source)

Paleontology-themed comics and graphic novels, their potential for scientific outreach, and the bilingual graphic novel EUROPASAURUS – Life on Jurassic Islands

Oliver Wings, Jan A. Fischer, Joschua Knüppe, Henning Ahlers et autres

Abstract. The first part of this article gives an overview of influential comics and graphic novels on paleontological themes from the last 12 decades. Through different forms of representation and narration, both clichés and the latest findings from paleontological research are presented …

de (code pays fourni par la source)

Paleontology-themed comics and graphic novels, their potential for scientific outreach, and the bilingual graphic novel EUROPASAURUS – Life on Jurassic Islands

Oliver Wings, Jan A. Fischer, Joschua Knüppe, Henning Ahlers et autres

Abstract. The first part of this article gives an overview of influential comics and graphic novels on paleontological themes from the last twelve decades. Through different forms of representation and narration, both clichés and the latest findings from paleontological research are presented …

de (code pays fourni par la source)