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Author/Creator Bier, Andrea

3. 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) ↗

4. Primary lung carcinoma in children and adolescents – Clinical characteristics and outcome of 12 cases from the German registry for rare paediatric tumours (STEP). (October 2021)

Authors:
Voggel, Sarah; Abele, Michael; Seitz, Christian; Agaimy, Abbas; Vokuhl, Christian; Dirksen, Uta; Bier, Andrea; Flaadt, Tim; Classen, Carl F.; Claviez, Alexander; Schneider, Dominik T.; Brecht, Ines B.
Journal:
Lung cancer
Issue:
Volume 160(2021)
Page Start:
66
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗