Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
RB1 genetic testing as a clinical service: a follow-up study.
Medical and pediatric oncology·2001
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Investigative ophthalmology & visual science·2001
Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.
Italian journal of pediatrics·2026
The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.
Journal of biomedical science·2026
The first 25 years of the NICHD Structural Birth Defects Initiative.
Developmental biology·2026