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Emanuela Argilli

3PUBLICATIONS
46CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Biomechanical engineeringNeurology and neuromuscular diseases
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Journal

Publications (3)

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|Jan 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Eunhye Lee, Seungmin Sim, Hee-Jung Choi

|Nov 06, 2024
Basic helix-loop-helix transcription factor <i>BHLHE22</i> monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Carolyn Le, Emanuela Argilli, Elizabeth George

|Jul 10, 2024
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.

Simon Früh, Sami Boudkkazi, Peter Koppensteiner

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Frequent Collaborators

2 joint publications

Elliott H Sherr

1 joint publications

Simon Früh

1 joint publications

Peter Koppensteiner

1 joint publications

Li-Yuan Chen

1 joint publications

Diego Fernandez-Fernandez

1 joint publications

Pascal D Rem

1 joint publications

Jochen Schwenk

1 joint publications

Elodie Le Monnier

1 joint publications

Thorsten Fritzius

1 joint publications

Luca Trovò

Frequent Collaborators

2 joint publications

Elliott H Sherr

1 joint publications

Simon Früh

1 joint publications

Peter Koppensteiner

1 joint publications

Li-Yuan Chen

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