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1 Ergebnisse
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Clinical and genetic characterization of a cohort of 97 CLN..:
Corina-Marcela Rus
;
Thomas Weissensteiner
;
Catarina Pereira
...
https://doi.org/10.1186/s13023-022-02288-8. , 2022
Link:
https://doi.org/10.1186/s13023-022-02288-8
RT Journal T1
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:ded9990fd9204f9b870ff9a0bb3a6b4f&Exemplar=1&LAN=DE A1 Corina-Marcela Rus A1 Thomas Weissensteiner A1 Catarina Pereira A1 Iuliana Susnea A1 Bright D. Danquah A1 Galina Morales Torres A1 Maria Eugenia Rocha A1 Claudia Cozma A1 Deepa Saravanakumar A1 Sumanth Mannepalli A1 Krishna K. Kandaswamy A1 Sebastiano Di Bucchianico A1 Ralf Zimmermann A1 Arndt Rolfs A1 Peter Bauer A1 Christian Beetz PB BMC YR 2022 K1 Rare disease K1 Lysosomal storage disorder K1 Batten disease K1 Neuronal ceroid lipofuscinoses K1 CLN6 K1 New variant K1 Medicine K1 R JF https://doi.org/10.1186/s13023-022-02288-8 LK http://dx.doi.org/https://doi.org/10.1186/s13023-022-02288-8 DO https://doi.org/10.1186/s13023-022-02288-8 SF ELIB - SuUB Bremen
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