Carolina Courage

Carolina Courage

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Carolina Courage

Carolina Courage

Publications by authors named "Carolina Courage"

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15Publications

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A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Eur J Med Genet 2020 Mar 16;63(3):103766. Epub 2019 Sep 16.

Folkhälsan Research Center, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103766DOI Listing
March 2020

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Am J Med Genet A 2019 12 11;179(12):2447-2453. Epub 2019 Sep 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61354DOI Listing
December 2019

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Clin Case Rep 2018 02 17;6(2):420-425. Epub 2018 Jan 17.

Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.

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http://dx.doi.org/10.1002/ccr3.1368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799658PMC
February 2018

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

Am J Med Genet A 2017 Jan 28;173(1):225-230. Epub 2016 Sep 28.

Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37986DOI Listing
January 2017

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Eur J Med Genet 2014 Sep 13;57(9):520-3. Epub 2014 Jun 13.

Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2014.06.003DOI Listing
September 2014

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Epilepsia 2012 Dec 27;53(12):2128-34. Epub 2012 Sep 27.

Division of Pediatric Neurology, Department of Pediatrics, Inselspital, University of Berne, Berne, Switzerland.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03676.xDOI Listing
December 2012