المؤلفون: Hammann, N., Lenz, D., Baric, I., Crushell, E., Vici, C.D., Distelmaier, F., Feillet, F., Freisinger, P., Hempel, M., Khoreva, A.L., Laass, M.W., Lacassie, Y., Lainka, E., Larson-Nath, C., Li, Z., Lipiński, P., Lurz, E., Mégarbané, A., Nobre, S., Olivieri, G., Peters, B., Prontera, P., Schlieben, L.D., Seroogy, C.M., Sobacchi, C., Suzuki, S., Tran, C., Vockley, J., Wang, J.S., Wagner, M., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Staufner, C.

المصدر: Molecular genetics and metabolism, vol. 141, no. 3, pp. 108118

مصطلحات موضوعية: Humans, Phenotype, Pelger-Huet Anomaly/complications, Pelger-Huet Anomaly/genetics, Pelger-Huet Anomaly/pathology, Liver Failure, Acute/genetics, Mutation, Missense, Neuroblastoma/complications, Genotype-phenotype correlation, ILFS2, NBAS, Recurrent acute liver failure, SOPH

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38244286; info:eu-repo/semantics/altIdentifier/eissn/1096-7206; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C34190170CCC7; https://serval.unil.ch/notice/serval:BIB_C34190170CCC; https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C34190170CCC
https://doi.org/10.1016/j.ymgme.2023.108118
https://serval.unil.ch/resource/serval:BIB_C34190170CCC.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C34190170CCC7