Publications by authors named "Jonas Elsner"

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Martin A Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Jonas Elsner

Nature· February 2023

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GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Henrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, Angela Teresa Abad-Perez, Jonas Elsner

Clin Genet· December 2021

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Genome sequencing in families with congenital limb malformations.
Jonas Elsner, Martin A Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni

Hum Genet· August 2021

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Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.
Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, Jonas Elsner, Angela Teresa Abad-Perez

J Med Internet Res· October 2020

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