Associated Papers
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc1.pdf
DLK1, Notch Signaling and the Timing of Puberty.
Macedo DB et al.
Seminars in Reproductive Medicine, 2019
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Molecular and Cellular Endocrinology, 2016
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