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Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals2023 Human Genetics article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Ariane Schmetz, Hermann‐Josef Lüdecke, Harald Surowy, Sugirthan Sivalingam, Ange‐Line Bruel, Roseline Caumes, +44 more
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