Associated Papers
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Cannizzaro IR et al.
International Journal of Molecular Sciences, 2024
39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Di Fede E et al.
Human Genetics, 2024
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
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