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Research Portal of the TU Dresden

Human Mutation

ISSNs: 1059-7794

Additional searchable ISSN (electronic): 1098-1004

Wiley-Liss , Hoboken, NJ

Scopus rating (2023): CiteScore 8.4 SJR 1.686 SNIP 1.218

Journal

Titles	Human Mutation Human mutation
Additional searchable titles	Human mutation, Human mutation., Hum Mutat
ISSNs	1059-7794
Additional searchable ISSN (electronic)	1098-1004
Publisher	Wiley-Liss , Hoboken, NJ
ZDB-ID	1126646-6
ZDB-ID	1498165-8

Keywords

ASJC Scopus subject areas

Genetics
Genetics (clinical)

Library keywords

570 Biology
590 Animals

Related content

Research output

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Di Donato, N., Rump, A., Mirzaa, G. M., Alcantara, D., Oliver, A., Schröck, E., Dobyns, W. B., & 1 othersO'Driscoll, M., 2016, In: Human Mutation. p. 242-245 4 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Identification and Characterisation of a Novel Constitutional PIK3CA Mutation in a Child lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum" (PROS).

Donato, N. D., Rump, A., Mirzaa, G. M., Alcantara, D., Oliver, A., Schröck, E., Dobyns, W. B., & 1 othersO'Driscoll, M., 2015, In: Human Mutation. p. 1-4 4 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β

Luksch, H., Romanowski, M. J., Chara, O., Tüngler, V., Caffarena, E. R., Heymann, M. C., Lohse, P., & 19 othersAksentijevich, I., Remmers, E. F., Flecks, S., Quoos, N., Gramatté, J., Petzold, C., Hofmann, S. R., Winkler, S., Pessler, F., Kallinich, T., Ganser, G., Nimtz-Talaska, A., Baumann, U., Runde, V., Grimbacher, B., Birmelin, J., Gahr, M., Roesler, J. & Rösen-Wolff, A., Jan 2013, In: Human Mutation. 34, 1, p. 122-131 10 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

Abicht, A., Dusl, M., Gallenmüller, C., Guergueltcheva, V., Schara, U., Della Marina, A., Wibbeler, E., & 7 othersAlmaras, S., Mihaylova, V., von der Hagen, M., Huebner, A., Chaouch, A., Müller, J. S. & Lochmüller, H., Oct 2012, In: Human Mutation. 33, 10, p. 1474-1484 11 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Michot, C., Hubert, L., Brivet, M., De Meirleir, L., Valayannopoulos, V., Müller-Felber, W., Venkateswaran, R., & 15 othersOgier, H., Desguerre, I., Altuzarra, C., Thompson, E., Smitka, M., Huebner, A., Husson, M., Horvath, R., Chinnery, P., Vaz, F. M., Munnich, A., Elpeleg, O., Delahodde, A., de Keyzer, Y. & de Lonlay, P., Jul 2010, In: Human Mutation. 31, 7, p. E1564-73

Research output: Contribution to journal › Research article › Contributed › peer-review

View all research output (8)