Alice Goldenberg
0000-0002-5864-9182
3 papers found
Refreshing results…
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
IL11RA- related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
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