-
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Benjamin Billiet, Patrizia Amati‐Bonneau, Valérie Desquiret‐Dumas, Khadidja Guehlouz, Dan Miléa, Philippe Gohier, +5 more
20citations -
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes2023 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maria Sáez González, Kes Kloosterhuis, Laura A. van de Pol, Frank F. Baas, Harald M. M. Mikkers
18citations
2 results