publication venue for
- A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay. 2022
- Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results. 2021
- Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome.. 54. 2010
- A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. 2022