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BMJ Case Reports|December 21, 2018
Special form of osteoporosis in a 53-year-old manSimon Lampart, Silvia Azzarello-Burri, Christoph Henzen, et al.
Hereditary Cancer in Clinical Practice|December 20, 2024
BRCA2 germline mutation carrier with five malignancies: a case reportElena Su, Yann Christinat, Thomas McKee, et al.
Pediatric Nephrology (Berlin, Germany)|March 15, 2012
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver diseaseAndrea Zingg-Schenk, Jürg Caduff, Silvia Azzarello-Burri, et al.
Swiss Medical Weekly|September 14, 2021
Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancerSusanna Stoll, Sheila Unger, Silvia Azzarello-Burri, et al.
Swiss Medical Weekly|August 19, 2019
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohortDennis Kraemer, Silvia Azzarello-Burri, Katharina Steindl, et al.
Molecular Syndromology|September 8, 2017
Low-Level Chromosomal Mosaicism in Neurodevelopmental DisordersBeatrice Oneda, Reza Asadollahi, Silvia Azzarello-Burri, et al.
European Journal of Human Genetics : EJHG|August 8, 2014
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesBernt Popp, Svein I Støve, Sabine Endele, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genesDeborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disabilityReza Asadollahi, Beatrice Oneda, Frenny Sheth, et al.
European Journal of Human Genetics : EJHG|March 12, 2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapMay-Britt Harmsen, Silvia Azzarello-Burri, M Mar García González, et al.
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