Dr. med. Mona Walther

List of publications:

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Institute of Human Genetics
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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
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Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation (2024) Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article A comparative observational study on intrasphincteric injections with Botulinum toxin vs. enteral neuromodulation in chronic refractory constipation (2023) Walther M, Müller H, Weiß C, Carbon R, Diez S, Besendörfer M Journal article Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023) Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al. Journal article