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Author/Creator Nissen, Anke M

1. Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation. Issue 4 (22nd February 2018)

Authors:
Morak, Monika; Ibisler, Ayseguel; Keller, Gisela; Jessen, Ellen; Laner, Andreas; Gonzales-Fassrainer, Daniela; Locher, Melanie; Massdorf, Trisari; Nissen, Anke M; Benet-Pagès, Anna; Holinski-Feder, Elke
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 4(2018)
Page Start:
240
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Issue 6 (3rd February 2016)

Authors:
Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhar...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 6(2016)
Page Start:
419
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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