Publications by authors named "Daisy Rymen"

17Publications

Glycogen storage disease type VI: clinical course and molecular background.

Eur J Pediatr 2020 Mar 26;179(3):405-413. Epub 2019 Nov 26.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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March 2020

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel Variant.

Genes (Basel) 2019 10 25;10(11). Epub 2019 Oct 25.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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October 2019

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 07 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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July 2019

Key features and clinical variability of COG6-CDG.

Mol Genet Metab 2015 Nov 29;116(3):163-70. Epub 2015 Jul 29.

Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité-Universitaetsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany. Electronic address:

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November 2015

Congenital disorders of glycosylation: other causes of ichthyosis.

Eur J Hum Genet 2014 Apr 31;22(4):444. Epub 2013 Jul 31.

Center for Human Genetics, KULeuven, Leuven, Belgium.

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April 2014

COG5-CDG: expanding the clinical spectrum.

Orphanet J Rare Dis 2012 Dec 10;7:94. Epub 2012 Dec 10.

Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.

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December 2012

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Glycoconj J 2013 Jan 15;30(1):67-76. Epub 2012 Sep 15.

Center for Human Genetics, University of Leuven, Herestraat 49, 3000, Leuven, Belgium.

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January 2013