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Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.
Published in:
2017
By:
- Rauschendorf, Marc‐Alexander;
- Jost, Meike;
- Stock, Friedrich;
- Zimmer, Andreas;
- Rösler, Bernd;
- Rijntjes, Michel;
- Piroth, Tobias;
- Coenen, Volker Arnd;
- Reinacher, Peter Christoph;
- Meyer, Philipp T.;
- Frings, Lars;
- Weiller, Cornelius;
- Fischer, Judith;
- Klebe, Stephan;
- Rauschendorf, Marc-Alexander;
- Rösler, Bernd
Publication type:
Case Study
Determination of endometrial cancer molecular subtypes using a whole exome-sequencing based single-method approach.
Published in:
Journal of Cancer Research & Clinical Oncology, 2024, v. 150, n. 7, p. 1, doi. 10.1007/s00432-024-05901-4
By:
- Mustea, Alexander;
- Ralser, Damian J.;
- Egger, Eva K.;
- Ziehm, Ulrike;
- Vivas, Sonia;
- Brock, Stephan;
- Jackson, David;
- Condic, Mateja;
- Rauschendorf, Marc-A.;
- Würfel, Patrick;
- Dombrowski, Frank;
- Otten, Lucia A.;
- Sun, Pengming;
- Laib, Anna;
- Cordova, Miguel Cubas;
- Hartmann, Rahel;
- Stein, Martin A.;
- Koensgen, Dominique;
- Stope, Matthias B.
Publication type:
Article
DDX3X, the X homologue of AZFa gene DDX3Y, expresses a complex pattern of transcript variants only in the male germ line.
Published in:
Molecular Human Reproduction, 2014, v. 20, n. 12, p. 1208, doi. 10.1093/molehr/gau081
By:
- Rauschendorf, Marc-Alexander;
- Zimmer, Jutta;
- Ohnmacht, Caroline;
- Vogt, Peter H.
Publication type:
Article
Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-57999-4
By:
- Epanchintsev, Alexey;
- Rauschendorf, Marc-Alexander;
- Costanzo, Federico;
- Calmels, Nadege;
- Obringer, Cathy;
- Sarasin, Alain;
- Coin, Frederic;
- Laugel, Vincent;
- Egly, Jean-Marc
Publication type:
Article
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.
Published in:
2019
By:
- Rauschendorf, Marc‐Alexander;
- Zimmer, Andreas D.;
- Laut, Astrid;
- Demmer, Philipp;
- Rösler, Bernd;
- Happle, Rudolf;
- Sartori, Silvina;
- Fischer, Judith
Publication type:
Letter to the Editor

Found: 5

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Determination of endometrial cancer molecular subtypes using a whole exome-sequencing based single-method approach.

DDX3X, the X homologue of AZFa gene DDX3Y, expresses a complex pattern of transcript variants only in the male germ line.

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.