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Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Journal article

Luyckx I. et al, (2024), J Med Genet, 61, 363 - 368

Population screening requires robust evidence-genomics is no exception.

Journal article

Turnbull C. et al, (2024), Lancet, 403, 583 - 586

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Journal article

BULLOCK A. et al, (2024), Journal of Medical Genetics

Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.

Journal article

Vogiatzi A. et al, (2023), Int J Mol Sci, 24

Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

Journal article

Zschocke J. et al, (2023), Nat Rev Genet

Gregor Mendel and the concepts of dominance and recessiveness.

Journal article

Zschocke J. et al, (2022), Nat Rev Genet

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