Sophie Scheidecker
3PUBLICATIONS
12CO-AUTHORS
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Publications (3)
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|Oct 08, 2025
<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer
|Apr 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.Aurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey
|Mar 05, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.Sophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi
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Frequent Collaborators
2 joint publications
Jean Muller
2 joint publications
Hélène Dollfus
1 joint publications
Anita Korpioja
1 joint publications
Véronique Geoffroy
1 joint publications
Catherine Jaeger
1 joint publications
Uwe Straehle
1 joint publications
Aida Bertoli-Avella
1 joint publications
Elisa Rahikkala
1 joint publications
Sylvie Friant
1 joint publications
Aurélie Gouronc
