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Author/Creator Hilmarsen, Hilde T

1. A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon. Issue 10 (22nd March 2022)

Authors:
Høyer, Helle; Hilmarsen, Hilde T; Sunder-Plassmann, Raute; Braathen, Geir J; Andersen, Peter M; Beetz, Christian; Hacker, Sandra; Holla, Øystein L; Kurth, Ingo; Löscher, Wolfgang N; Reiter, Simone B C F; Rudnik-Schöneborn, Sabine; Strand, Linda; Windhager, Reinhard; Witsch-Baumgartner, Martina; S...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
1024
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020)

Authors:
Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
15
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗