Publications by authors named "E Aten"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Emmelien Aten

Am J Hum Genet· November 2025

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Genetic Alterations in Patients with -Related Schwannomatosis and Sporadic Vestibular Schwannomas.
Jules P J Douwes, Ronald van Eijk, Sybren L N Maas, Jeroen C Jansen, Emmelien Aten

Cancers (Basel)· January 2025

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Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.
Anne-Sophie van der Werf't Lam, Noah C Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Emmelien Aten

Exp Mol Pathol· December 2024

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Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with -Gene Variants.
Hoi W Wu, Ivo P Van de Peppel, Julie W Rutten, J Wouter Jukema, Emmelien Aten

J Cardiovasc Dev Dis· March 2024

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Emmelien Aten

Am J Hum Genet· June 2023

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