Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.
Martínez-Gil N et al.
Jbmr Plus, 2020
The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.
Roessler E et al.
Cytogenetics and Cell Genetics, 2000
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