Publications by authors named "J Beygo"

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Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo

medRxiv· November 2025

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No indications of weight gain associated DNA methylation changes in patients with anorexia nervosa.
Luisa Sophie Rajcsanyi, Miriam Kesselmeier, Christopher Schröder, Carolin Schmelting, Triinu Peters, Jasmin Beygo

Sci Rep· August 2025

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Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant.
Adela Della Marina, Andreas Hentschel, Martin Stenzel, Ulrike Schara-Schmidt, Alma Osmanovic, Jasmin Beygo

J Neuropathol Exp Neurol· November 2024

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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Jasmin Beygo

Front Genet· November 2024

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Deborah J G Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Jasmin Beygo

Clin Epigenetics· August 2024

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