Publications by authors named "Annette Uwineza"

18Publications

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Eur J Med Genet 2019 Aug 14;62(8):103704. Epub 2019 Jun 14.

Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2019.103704DOI Listing
August 2019

Medical genetics and genomic medicine in Rwanda.

Mol Genet Genomic Med 2015 Nov 8;3(6):486-9. Epub 2015 Nov 8.

Center for Medical Genetics College of Medicine and Health Sciences University of Rwanda Huye Rwanda.

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http://dx.doi.org/10.1002/mgg3.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694135PMC
November 2015

Pattern of congenital heart diseases in Rwandan children with genetic defects.

Pan Afr Med J 2014 25;19:85. Epub 2014 Sep 25.

Center for Medical Genetics, School of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda ; Department of Clinical Genetics, Kigali University Teaching Hospital, University of Rwanda, Kigali, Rwanda.

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http://dx.doi.org/10.11604/pamj.2014.19.85.3428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335284PMC
October 2015

Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.

J Trop Pediatr 2014 Apr 7;60(2):112-7. Epub 2013 Nov 7.

Center for Medical Genetics, Department of Molecular Biology & Cytogenetics, Faculty of Medicine, National University of Rwanda, PO Box 30-Butare, Rwanda.

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http://dx.doi.org/10.1093/tropej/fmt090DOI Listing
April 2014