Publications by authors named "Maike Leferink"

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Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.
Hilde Swinkels, Maike Leferink, Maartje Pennings, Bart van der Sanden, Christian Gilissen

Eur J Hum Genet· November 2025

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Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Sanne P Smeekens, Maike Leferink, Helger G Yntema, Erik-Jan Kamsteeg

Prenat Diagn· October 2024

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Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Maike Leferink, Daphne P W Wong, Shiwei Cai, Minli Yeo, Jocelin Ho

Sci Rep· June 2019

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Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
Marieke J H Coenen, Alide A Tieleman, Mascha M V A P Schijvenaars, Maike Leferink, Laura P W Ranum

Eur J Hum Genet· May 2011

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste

Brain· March 2010

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