Associated Papers
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 2024
39252027 (PubMed )
Supplement: 13073_2024_1381_MOESM2_ESM.xlsx › Table_S1
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
30680046 (PubMed )
Supplement: 13053_2018_102_MOESM1_ESM.xlsx › Tabelle1
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Palma Milla C et al.
Annals of Human Genetics, 2018
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