Publications by authors named "Lilian B Ousager"

9Publications

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

J Hum Genet 2017 Feb 13;62(2):151-157. Epub 2016 Oct 13.

Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1038/jhg.2016.118DOI Listing
February 2017

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Clin Dysmorphol 2016 Apr;25(2):68-72

aDepartment of Clinical Genetics bH.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark cMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh dUniversity of Southampton, Southampton, UK eDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1097/MCD.0000000000000110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772811PMC
April 2016

Heart defects and other features of the 22q11 distal deletion syndrome.

Eur J Med Genet 2013 Feb 10;56(2):98-107. Epub 2012 Oct 10.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2012.09.009DOI Listing
February 2013

Histiocytic disorders of the gastrointestinal tract.

Hum Pathol 2013 May 11;44(5):683-96. Epub 2012 Oct 11.

Department of Clinical Pathology, Vejle Hospital, 7100 Vejle, Denmark.

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http://dx.doi.org/10.1016/j.humpath.2012.05.010DOI Listing
May 2013