Publications by authors named "Gaber Bergant"

3Publications

Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.

Mov Disord 2020 05 10;35(5):880-885. Epub 2020 Jan 10.

Sorbonne Université, Institut du Cerveau et de la Moelle épinière, Inserm U 1127, CNRS UMR 7225, F-75013, Paris, France.

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http://dx.doi.org/10.1002/mds.27982DOI Listing
May 2020

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Genet Med 2018 03 14;20(3):303-312. Epub 2017 Sep 14.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1038/gim.2017.142DOI Listing
March 2018