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

Document Type

Journal

Author

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

Source

NEUROMUSCULAR DISORDERS; OCT 2023, 33 pS130-pS130, 1p. Supplement: SUPP1

Subject

Language

English

ISSN

18732364

Online Access

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

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