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- 2016
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Mark
FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma.
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- Contribution to journal › Article
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Primary Pseudomyogenic Hemangioendothelioma of Bone.
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- Contribution to journal › Article
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L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
2016) In Clinical Genetics(
- Contribution to journal › Article
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Mark
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
2016) In Nature Genetics(
- Contribution to journal › Article
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Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
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- Contribution to journal › Article
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Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
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- Contribution to journal › Article
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
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- Contribution to journal › Article
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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
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- Contribution to journal › Article
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A New Method for Endoscopic Sampling of Submucosal Tissue in the Gastrointestinal Tract : A Comparison of the Biopsy Forceps and a New Drill Instrument
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- Contribution to journal › Article
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Gain of 1q as a prognostic biomarker in Wilms Tumors (WTs) treated with preoperative chemotherapy in the International Society of Paediatric Oncology (SIOP) WT 2001 trial : A SIOP renal tumours biology consortium study
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- Contribution to journal › Article