Publications by authors named "Helene Faust"

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Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.
Christina Klötzer, Franziska Schnabel, Anne-Sophie Kubasch, Madlen Jentzsch, Georg-Nikolaus Franke, Helene Faust

Acta Haematol· July 2025

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Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.
Robert Künzel, Helene Faust, Linnaeus Bundalian, Matthias Blüher, Mariami Jasaszwili

Int J Obes (Lond)· July 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Helene Faust

Eur J Hum Genet· May 2025

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Helene Faust

Genet Med· March 2025

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Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel Variant: A Case Report.
Tobias Bachmann, Helene Faust, Rami Abou Jamra, Christina Pott, Michael Kluge

Neurol Genet· December 2024

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Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.
Helene Faust, Patricia Duffek, Julia Hentschel, Denny Popp

J Clin Lab Anal· March 2024

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Carnosine inhibits glioblastoma growth independent from PI3K/Akt/mTOR signaling.
Henry Oppermann, Helene Faust, Ulrike Yamanishi, Jürgen Meixensberger, Frank Gaunitz

PLoS One· February 2020

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