Associated Papers
Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene.
Tan M et al.
Molecular Syndromology, 2025
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly.
Javed Khan M et al.
Molecular Syndromology, 2024
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
Aubert-Mucca M et al.
Journal of Medical Genetics, 2023
Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.
Woodhouse R et al.
Plos One, 2020
32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL et al.
European Journal of Cancer (oxford, England : 1990), 2019
31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1
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