Claude Besmond

3PUBLICATIONS
18CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (3)

|May 17, 2021
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Anne Schänzer, Melanie T Achleitner, Dietrich Trümbach

|Nov 17, 2020
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux

|Aug 24, 2019
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Laurence Hubert, Magda Cannata Serio, Laure Villoing-Gaudé

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Frequent Collaborators

1 joint publications

Charles-Joris Roux

1 joint publications

Manuel Schiff

1 joint publications

Anne Schänzer

1 joint publications

Dietrich Trümbach