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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

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the "DFNA48 Gene", as a Cause of Deafness

Eisenberger, T., Di Donato, N., Baig, S. M., Neuhaus, C., Beyer, A., Decker, E., Mürbe, D., & 3 othersDecker, C., Bergmann, C. & Bolz, H. J., May 2014, In: Human mutation. 35, 5, p. 565-570 6 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

Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

Bisschoff, I. J., Zeschnigk, C., Horn, D., Wellek, B., Rieß, A., Wessels, M., Willems, P., & 23 othersJensen, P., Busche, A., Bekkebraten, J., Chopra, M., Hove, H. D., Evers, C., Heimdal, K., Kaiser, A. S., Kunstmann, E., Robinson, K. L., Linné, M., Martin, P., McGrath, J., Pradel, W., Prescott, K. E., Roesler, B., Rudolf, G., Siebers-Renelt, U., Tyshchenko, N., Wieczorek, D., Wolff, G., Dobyns, W. B. & Morris-Rosendahl, D. J., Jan 2013, In: Human mutation. 34, 1, p. 237-247 11 p.

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

View all research output (13)