subject area of
- A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy Journal Articles
- Achondroplasia–hypochondroplasia complex in a newborn infant Journal Articles
- Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome Journal Articles
- Insights into the Renal Pathogenesis in Schimke Immuno-Osseous Dysplasia Journal Articles
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome Journal Articles
- Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations Journal Articles
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Journal Articles
- Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus Journal Articles
- Schimke immunoosseous dysplasia complicated by moyamoya phenomenon Journal Articles