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Case report
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
Cancer Risks for PMS2-Associated Lynch Syndrome
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
Childhood Brain Tumours Due To Germline Bi-Allelic Mismatch Repair Gene Mutations
Comprehensive Genetic Analysis of Seven Large Families with Mismatch Repair Proficient Colorectal Cancer
Quantification of Sequence Exchange Events between PMS2 and PMS2CL Provides a Basis for Improved Mutation Scanning of Lynch Syndrome Patients
