Ange-Line Bruel
0000-0002-0526-465X
22 papers found
Refreshing results…
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Missing publications? Search for publications with a matching author name.