Erdmute Kunstmann

Affiliations

Institute of Human Genetics, University of Würzburg, Würzburg, Germany.

Publications (6)

Paternal 132 bp deletion affecting

Journal of medical genetics

Avec: Thomas Eggermann , Florian Kraft , Eva Lausberg , Katrin Ergezinger , Erdmute Kunstmann

The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness.

Molecular cell

Avec: Daniele Hasler , Rajyalakshmi Meduri , Maciej Bąk , Gerhard Lehmann , Leonhard Heizinger , Xin Wang , Zhi-Tong Li , François M Sement , Astrid Bruckmann , Anne-Catherine Dock-Bregeon , Rainer Merkl , Reinhard Kalb , Eva Grauer , Erdmute Kunstmann , Mihaela Zavolan , Mo-Fang Liu , Utz Fischer , Gunter Meister

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Journal of clinical medicine

Avec: Konstantinos Kolokotronis , Natalie Pluta , Eva Klopocki , Erdmute Kunstmann , Daniel Messroghli , Christoph Maack , Shai Tejman-Yarden , Michael Arad , Simone Rost , Brenda Gerull

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.

European journal of human genetics : EJHG

Avec: Nadine N Hauer , Bernt Popp , Leila Taher , Carina Vogl , Perundurai S Dhandapany , Christian Büttner , Steffen Uebe , Heinrich Sticht , Fulvia Ferrazzi , Arif B Ekici , Alessandro De Luca , Patrizia Klinger , Cornelia Kraus , Christiane Zweier , Antje Wiesener , Rami Abou Jamra , Erdmute Kunstmann , Anita Rauch , Dagmar Wieczorek , Anna-Marie Jung , Tilman R Rohrer , Martin Zenker , Helmuth-Guenther Doerr , André Reis , Christian T Thiel

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.

Clinical genetics

Avec: Thomas Eggermann , Florian Kraft , Katja Kloth , Eva Klopocki , Irina Hüning , Maja Hempel , Erdmute Kunstmann

A case report of Sanfilippo syndrome - the long way to diagnosis.

BMC neurology

Avec: Delia Lorenz , Thomas Musacchio , Erdmute Kunstmann , Eva Grauer , Natalie Pluta , Annika Stock , Christian P Speer , Helge Hebestreit

Réseau de co-auteurs

Thomas Eggermann 2 collaborations

Florian Kraft 2 collaborations

Eva Grauer 2 collaborations

Natalie Pluta 2 collaborations

Eva Klopocki 2 collaborations

Eva Lausberg 1 collaboration

Katrin Ergezinger 1 collaboration

Daniele Hasler 1 collaboration

Rajyalakshmi Meduri 1 collaboration

Maciej Bąk 1 collaboration

Gerhard Lehmann 1 collaboration

Leonhard Heizinger 1 collaboration

Xin Wang 1 collaboration

Zhi-Tong Li 1 collaboration

François M Sement 1 collaboration

Astrid Bruckmann 1 collaboration

Anne-Catherine Dock-Bregeon 1 collaboration

Rainer Merkl 1 collaboration

Reinhard Kalb 1 collaboration

Mihaela Zavolan 1 collaboration

Mo-Fang Liu 1 collaboration

Utz Fischer 1 collaboration

Gunter Meister 1 collaboration

Konstantinos Kolokotronis 1 collaboration

Daniel Messroghli 1 collaboration

Christoph Maack 1 collaboration

Shai Tejman-Yarden 1 collaboration

Michael Arad 1 collaboration

Simone Rost 1 collaboration

Brenda Gerull 1 collaboration

Nadine N Hauer 1 collaboration

Bernt Popp 1 collaboration

Leila Taher 1 collaboration

Carina Vogl 1 collaboration

Perundurai S Dhandapany 1 collaboration

Christian Büttner 1 collaboration

Steffen Uebe 1 collaboration

Heinrich Sticht 1 collaboration

Fulvia Ferrazzi 1 collaboration

Arif B Ekici 1 collaboration

Alessandro De Luca 1 collaboration

Patrizia Klinger 1 collaboration

Cornelia Kraus 1 collaboration

Christiane Zweier 1 collaboration

Antje Wiesener 1 collaboration

Rami Abou Jamra 1 collaboration

Anita Rauch 1 collaboration

Dagmar Wieczorek 1 collaboration

Anna-Marie Jung 1 collaboration

Tilman R Rohrer 1 collaboration

Martin Zenker 1 collaboration

Helmuth-Guenther Doerr 1 collaboration

André Reis 1 collaboration

Christian T Thiel 1 collaboration

Katja Kloth 1 collaboration

Irina Hüning 1 collaboration

Maja Hempel 1 collaboration

Delia Lorenz 1 collaboration

Thomas Musacchio 1 collaboration

Annika Stock 1 collaboration

Christian P Speer 1 collaboration

Helge Hebestreit 1 collaboration