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O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Document Type

Abstract

Author

Roos, A.; van der Ven, P.; Alrohaif, H.; Kölbel, H.; Heil, L.; Della Marina, A.; Weis, J.; Töpf, A.; Vorgerd, M.; Schara-Schmidt, U.; Gangfuss, A.; Evangelista, T.; Hentschel, A.; Grüneboom, A.; Fuerst, D.; Kuechler, A.; Tzschach, A.; Depienne, C.; Lochmüller, H.

Source

In Neuromuscular Disorders October 2023 33 Supplement 1:S130-S130

Subject

Language

ISSN

0960-8966

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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