Publications by authors named "Miriam Kinzel"

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Trisomy 18 mosaicism - are we able to predict postnatal outcome by analysing the tissue-specific distribution?
Iris Dressler-Steinbach, Miriam Kinzel, Holger Janke, Rainer Wimmer, Alexander Weichert

J Perinat Med· March 2025

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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, Klaus Oberhuber, Hendrik Gottschling

Biomolecules· September 2022

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Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Sahra Bodo, Chrystelle Colas, Olivier Buhard, Ada Collura, Julie Tinat, Miriam Kinzel

Gastroenterology· October 2015

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White papules on the face, neck and upper chest. Birt-Hogg-Dubé syndrome.
Matthias Steinhoff, Miriam Kinzel, Dieter Krahl

J Dtsch Dermatol Ges· September 2012

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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, Sven Gottschling, Andrea Bier

Eur J Hum Genet· January 2008

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