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- De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
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- Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
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- Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context
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- Relation between WHO classification and location- and functionality-based classifications of neuroendocrine neoplasms of the digestive tract
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- Discordant staining patterns and microsatellite results in tumors of MSH6 pathogenic variant carriers
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- APC mosaicism, not always isolated: two first-degree relatives with apparently distinct APC mosaicism
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- Biallelic Variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia
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- Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas
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- The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations
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- Recurrent APC splice variant c.835-8A > G in patients with unexplained colorectal polyposis fulfilling the colibactin mutational signature
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- Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019
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- Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
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- An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
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- Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans
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- Patients with High-Grade Gliomas and Cafe-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis?
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- The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect
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- The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect