Publications by authors named "Silvia Azzarello-Burri"

19Publications

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Special form of osteoporosis in a 53-year-old man.

BMJ Case Rep 2018 Dec 13;11(1). Epub 2018 Dec 13.

Division of Endocrinology and Diabetes, Luzerner Kantonsspital, Luzern, Switzerland.

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22667
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http://dx.doi.org/10.1136/bcr-2018-226672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301502PMC
December 2018

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Mol Syndromol 2017 Aug 13;8(5):266-271. Epub 2017 Jun 13.

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1159/000477189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582502PMC
August 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Invest Ophthalmol Vis Sci 2017 08;58(10):3840-3850

Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland 11Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland 12Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1167/iovs.17-21597DOI Listing
August 2017

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.

Neuropediatrics 2017 Feb 26;48(1):57-58. Epub 2016 Dec 26.

Division of Pediatric Neurology, University Children's Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1055/s-0036-1597610DOI Listing
February 2017

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.

Pediatr Nephrol 2012 Jul 14;27(7):1197-200. Epub 2012 Mar 14.

Children's Hospital Lucerne, 6000, Lucerne, Switzerland.

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http://dx.doi.org/10.1007/s00467-012-2137-5DOI Listing
July 2012