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Medientyp
- Text 2
Karte
Erscheinungsjahr
Autor/in
- Campbell, Susan E
- Lessel, Davor 2
- Altmüller, Janine 1
- Arlt, Martin F 1
- Gordon, Leslie B 1
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Sprache
- Englisch 2
2 Einträge gefunden
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A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
- Lessel, Davor
- Rading, Katrin
- Campbell, Susan E
- Thiele, Holger
- Altmüller, Janine
- Gordon, Leslie B
- Kubisch, Christian
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
- Lessel, Davor
- Ozel, Ayse Bilge
- Campbell, Susan E
- Saadi, Abdelkrim
- Arlt, Martin F
- McSweeney, Keisha Melodi
- Plaiasu, Vasilica