Daisy Rymen

Daisy Rymen

UNVERIFIED PROFILE

Are you Daisy Rymen?   Register this Author

Register author
Daisy Rymen

Daisy Rymen

Publications by authors named "Daisy Rymen"

Are you Daisy Rymen?   Register this Author

13Publications

706Reads

45Profile Views

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

Am J Hum Genet 2019 Jul 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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192153003
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2015.07.003DOI Listing
November 2015

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10719-012-9445-7DOI Listing
January 2013