Skip to content Skip to footer

Research Portal of the TU Dresden

European Journal of Medical Genetics

ISSNs: 1769-7212, 0003-3995

Additional searchable ISSN (electronic): 1878-0849

Elsevier

Scopus rating (2023): CiteScore 4.1 SJR 0.666 SNIP 0.718

Journal

Titles	European Journal of Medical Genetics European journal of medical genetics Annales de Genetique
Additional searchable titles	Eur J Med Genet, European journal of medical genetics, Eur J Med Genet
ISSNs	1769-7212, 0003-3995
Additional searchable ISSN (electronic)	1878-0849
Publisher	Elsevier
ZDB-ID	2184135-4
ZDB-ID	2186601-6

Keywords

ASJC Scopus subject areas

Genetics
Genetics (clinical)

Library keywords

570 Biology
590 Animals

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Walsh, S., Gösswein, S. S., Rump, A., von der Hagen, M., Hackmann, K., Schröck, E., Di Donato, N., & 1 othersKahlert, A. K., Oct 2020, In: European journal of medical genetics. 63, 10, 104019.

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

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Koehler, K., Hackmann, K., Landgraf, D., Schubert, T., Shakiba, M., Kariminejad, A. & Huebner, A., May 2019, In: European journal of medical genetics.

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

BRCA1/2 missense mutations and the value of in-silico analyses

Sadowski, C. E., Kohlstedt, D., Meisel, C., Keller, K., Becker, K., Mackenroth, L., Rump, A., & 3 othersSchröck, E., Wimberger, P. & Kast, K., 2017, In: European Journal of Medical Genetics. 60, 11, p. 572-577 6 p.

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

Interstitial deletion 1p36.32 in two brothers with a distinct phenotype - Overgrowth, macrocephaly and nearly normal intellectual function

Di Donato, N., Klink, B., Hahn, G., Schrock, E. & Hackmann, K., 2014, In: European journal of medical genetics. 57, 9, p. 494-497 4 p.

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

View all research output (4)

Research Portal of the TU Dresden

Keywords

ASJC Scopus subject areas

Library keywords

Related content