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Journal of Clinical Immunology|October 17, 2015
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE SyndromeGlynis Frans, Leen Moens, Rik Schrijvers, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
A standardized framework for the validation and verification of clinical molecular genetic testsChristopher J Mattocks, Michael A Morris, Gert Matthijs, et al.
Breathe (Sheffield, England)|January 15, 2021
A double-edged swordMartijn Vandebotermet, Frederik Staels, Simone Giovannozzi, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathyTomas Robyns, Cuno Kuiperi, Jeroen Breckpot, et al.
Neurology|October 10, 2022
Child Neurology: Familial Hemophagocytic Lymphohistiocytosis Underlying Isolated CNS InflammationGiorgia Bucciol, Nele Willemyns, Benjamin Verhaaren, et al.
Heart Rhythm|February 19, 2017
Individualized corrected QT interval is superior to QT interval corrected using the Bazett formula in predicting mutation carriage in families with long QT syndromeTomas Robyns, Rik Willems, Bert Vandenberk, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2017
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequenceLore Winters, Evelien Van Hoof, Luc De Catte, et al.
Acta Cardiologica|October 5, 2019
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20Tomas Robyns, Rik Willems, Johan Van Cleemput, et al.
European Journal of Medical Genetics|October 13, 2017
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutationAleksandra Nijak, Maaike Alaerts, Cuno Kuiperi, et al.
Cancer Research|October 3, 2002
Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemiaAlessandra Martini, Roberta La Starza, Hilde Janssen, et al.
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