Brief Communication |
Featured
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Article |
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma
- Valentina Imperatore
- , Anna Maria Pinto
- & Francesca Ariani
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Article |
Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents
- Jessica A Hill
- , Amal Gedleh
- & Helen Dimaras
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Article |
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism
- Sara Amitrano
- , Annabella Marozza
- & Francesca Ariani
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Short Report |
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay
- Laurent Castéra
- , Catherine Dehainault
- & Claude Houdayer
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Article |
Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
- Diana Mitter
- , Reinhard Ullmann
- & Dietmar Lohmann
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Clinical Utility Gene Card |
Clinical utility gene card for: Retinoblastoma
- Dietmar Lohmann
- , Brenda Gallie
- & Marion Gauthier-Villars