Featured
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Article |
Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer
- Binyi Xiao
- , Jun Luo
- & Pei-Rong Ding
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Article |
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing
- Anne ML Jansen
- , Heleen M van der Klift
- & Tom van Wezel
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Correspondence |
Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply
- Frédéric Brioude
- , Raoul Hennekam
- & Irene Netchine
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Short Report |
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
- Leila Youssefian
- , Hassan Vahidnezhad
- & Jouni Uitto
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Short Report
| Open AccessDeep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor
- Arnault Tauziède-Espariat
- , Julien Masliah-Planchon
- & Franck Bourdeaut
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Article |
Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines
- Jack Brzezinski
- , Cheryl Shuman
- & Rosanna Weksberg
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Article
| Open AccessThe sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events
- Matthew A M Todd
- , Michael S Huh
- & David J Picketts
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(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
- Alessandro Mussa
- , Silvia Russo
- & Giovanni Battista Ferrero