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Research Portal of the TU Dresden

American Journal of Medical Genetics, Part A

ISSNs: 1552-4825

Additional searchable ISSN (electronic): 1552-4833

Wiley-Liss , Hoboken, NJ

Scopus rating (2023): CiteScore 3.5 SJR 0.718 SNIP 0.868

Journal

Titles	American Journal of Medical Genetics, Part A American journal of medical genetics. Part A American Journal of Medical Genetics
Additional searchable titles	American journal of medical genetics, American journal of medical genetics. Part A, American journal of medical genetics. Part A., Am J Med Genet A
ISSNs	1552-4825
Additional searchable ISSN (electronic)	1552-4833
Publisher	Wiley-Liss , Hoboken, NJ
ZDB-ID	2108614-X
ZDB-ID	1493479-6

Keywords

ASJC Scopus subject areas

Genetics
Genetics (clinical)

Library keywords

570 Biology
590 Animals

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

Pirozzi, F., Lee, B., Horsley, N., Burkardt, D. D., Dobyns, W. B., Graham, J. M., Dentici, M. L., & 6 othersCesario, C., Schallner, J., Porrmann, J., Di Donato, N., Sanchez-Lara, P. A. & Mirzaa, G. M., Sept 2021, In: American journal of medical genetics. Part A. 185, 9, p. 2719-2738 20 p.

Research output: Contribution to journal › Review article › Contributed

Genomic profiling in neuronal dyneinopathies and updated classifications

Dafsari, H. S., Becker, L. L., von der Hagen, M. & Cirak, S., Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2607-2610 4 p.

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

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

Koehler, K., Schuelke, M., Hell, A. K., Schittkowski, M., Huebner, A. & Brockmann, K., 11 Dec 2019, In: American Journal of Medical Genetics, Part A.

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

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Alter, S., Hotz, A., Jahn, A., Di Donato, N., Schröck, E., Smitka, M., von der Hagen, M., & 6 othersSchallner, J., Menschikowski, M., Gillitzer, C., Laass, M. W., Fischer, J. & Tzschach, A., Dec 2018, In: American Journal of Medical Genetics, Part A. 176, 12, p. 2862-2866 5 p.

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

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.

Podolska, A., Kobelt, A., Fuchs, S., Hackmann, K., Rump, A., Schröck, E., Kutsche, K., & 1 othersDi Donato, N., 2017, In: American Journal of Medical Genetics, Part A. p. 1334-1341 8 p.

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

View all research output (16)

Research Portal of the TU Dresden

Keywords

ASJC Scopus subject areas

Library keywords

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