Miriam Kinzel

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Sahra Bodo, Chrystelle Colas, Olivier Buhard et al. · Gastroenterology · 2015 · 96 citations · Full text

Primary Immunodeficiency, Methylating Agents, Genetic Testing +10

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1

Stefan Krüger, Miriam Kinzel, Constanze Walldorf et al. · European Journal of Human Genetics · 2007 · 88 citations · Full text

Neuro-oncology, Hnpcc-associated Tumours, Somatic Variant +7

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis

Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt et al. · Biomolecules · 2022 · 20 citations · Full text

Cosmic Signature Sbs20, Cancer Pathology, Genetics +20

A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?

Victoria Schubert, Benjamin Bender, Miriam Kinzel et al. · Journal of Neurology · 2018 · 11 citations

Genetic Disorder, Genetics, Pathogenesis +9