Ariane Schmetz
4PUBLICATIONS
40CO-AUTHORS
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Publications (4)
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|Mar 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.Silvestre Cuinat, Nicolas Chatron, Florence Petit
|Jan 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel
|Jul 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.Mythily Ganapathi, Leticia S Matsuoka, Michael March
|Mar 29, 2023
FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.Ariane Schmetz, Jörg Schaper, Simon Thelen
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Frequent Collaborators
2 joint publications
Nicolas Chatron
1 joint publications
Thomas Klenzner
1 joint publications
Harald Surowy
1 joint publications
Mythily Ganapathi
1 joint publications
Dong Li
1 joint publications
Susan M White
1 joint publications
Priyanka Ahimaz
1 joint publications
Nuria C Bramswig
1 joint publications
Julia Baptista
1 joint publications
Karen Stals
