Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v
Overview
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v is a scientific journal, published by De Gruyter since 1989 in German. The journal's country of origin is Germany and its primary focus areas are genetics and medical ethics.
Details
Details
Abbr.
Med Genet
Publisher
De Gruyter
Start
1989
End
Continuing
Frequency
Four no. a year
p-ISSN
0936-5931
e-ISSN
1863-5490
Country
Germany
Language
German
Specialties
Genetics
Medical Ethics
Medical Ethics
Metrics
Metrics
h-index / Ranks: 14180
11
SJR / Ranks: 12971
234
CiteScore / Ranks: 13177
0.90
JIF / Ranks: 6694
1.1
Recent Articles
1.
Klopstock T, Zeng L, Priglinger C
Med Genet
. 2025 Feb;
37(1):57-63.
PMID: 39963374
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease, and was the first to be linked to mitochondrial DNA (mtDNA) variations. Recently, autosomal recessive forms of LHON were...
2.
Stohr H, Weber B
Med Genet
. 2025 Feb;
37(1):3-10.
PMID: 39963373
Inherited retinal diseases are clinically and genetically highly heterogeneous conditions with many phenotypic overlaps, syndromic presentations and atypical manifestations. This article is a narrative review that offers an overview of...
3.
Kellner U, Kellner S, Weinitz S, Farmand G
Med Genet
. 2025 Feb;
37(1):11-18.
PMID: 39963372
Inherited retinal dystrophies and optic neuropathies (IRD) are the most frequent cause for vision loss in the working age. The huge variability of phenotypes and initial clinical presentation frequently delay...
4.
5.
Degenhardt F, Brauer A, Hohmann S, Holtmann M, Barth N, Richterich A, et al.
Med Genet
. 2025 Feb;
37(1):65-72.
PMID: 39943988
No abstract available.
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7.
Klaus S, Breunig M, Gopferich A
Med Genet
. 2025 Feb;
37(1):37-46.
PMID: 39943986
Visual impairment is a severe global health problem. Underlying ocular diseases can affect both the anterior and posterior eye. Unfortunately, the efficient delivery of drug molecules to the posterior eye,...
8.
Cornelis S, Cremers F
Med Genet
. 2025 Feb;
37(1):19-25.
PMID: 39943985
Stargardt disease type 1 (STGD1) is caused by biallelic pathogenic variants in . These variants vary in their effect on the resulting protein and the disease phenotype. Not all variant...
9.
10.
Lorenz B
Med Genet
. 2025 Feb;
37(1):47-56.
PMID: 39943983
biallelic mutation-associated inherited retinal degeneration (IRD) is currently the only IRD for which gene therapy is approved. This narrative review provides a brief overview of the disease and an update...