publication venue for
- Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.. 64. 2021
- Psychiatric adverse effects of rimonobant in adults with Prader Willi syndrome.. 54. 2010
- A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.. 65. 2022
- Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.. 60. 2017
- Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.. 56. 2012
- A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. 2022