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Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS) : a European cohort study
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The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
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Cancer prognosis in PTEN Hamartoma Tumor Syndrome : a European cohort study
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.563-564 -
MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
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Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
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Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers