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Melissa Boerrigter

Explore the profile of Melissa Boerrigter including associated specialties, affiliations and a list of published articles. Areas
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Citations 19
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Recent Articles
1.
Schonauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet M, et al.
Gastroenterology . 2023 Dec; 166(5):902-914. PMID: 38101549
Background & Aims: Autosomal dominant polycystic liver disease is a rare condition with a female preponderance, based mainly on pathogenic variants in 2 genes, PRKCSH and SEC63. Clinically, autosomal dominant...
2.
Duarri A, Nibbeling E, Fokkens M, Meijer M, Boerrigter M, Verschuuren-Bemelmans C, et al.
PLoS One . 2015 Mar; 10(3):e0116599. PMID: 25756792
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3. To identify novel pathogenic SCA13...