Melanie Bienek und Mutation - Info zur Person

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ZC4H2 Mutations Are Associated with Arthrogryposis ...Scholars Portal

journals.scholarsportal.info

... Marie-Amélie Papon · Ute Fischer · Sylviane Marouillat · Can Ding · Servane Alirol · Melanie Bienek · Sabine Preisler-Adams · Astrid Grimme ...

Hugues Richard - LCQBSorbonne Université

www.lgm.upmc.fr

Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Bokhoven, Jamel Chelly, Hilger Ropers, and Wei. Chen. “Mutation screening in 86 known X-linked ...

Novel Missense Mutation A789V in IQSEC2 Underlies X- ...ReadCube Papers

www.readcube.com

Renske Oegema 5, Corinna Jensen 1, Melanie Bienek 1, Hao Hu 1, Stefan A. Haas 6, Maya Topf 7, A. Jeannette M. Hoogeboom 5, Kirsten Harvey 3, ...

THOC2 Mutations Implicate mRNA-Export Pathway in X- ...ScienceDirect

www.sciencedirect.com

— Carolyn Rogers 6 , Jackie Boyle 6 , Melanie Bienek 7 , Corinna Jensen 7 … Jozef Gecz Show more. Add to Mendeley. Share. Cite.

Mutations in DDX3X Are a Common Cause of Unexplained ...CORE

core.ac.uk

— Melanie Bienek,15 Corinna Jensen,15 Bart L. Loeys,6 Anke Van Dijck,6 A. Micheil Innes,16. Hilary Racher,16 Sascha Vermeer,17 Nataliya Di ...

Mutations in DDX3X Are a Common Cause of Unexplained ...Hofstra University

academicworks.medicine.hofstra.edu

Melanie Bienek,15 Corinna Jensen,15 Bart L. Loeys,6 Anke Van Dijck,6 A. Micheil Innes,16. Hilary Racher,16 Sascha Vermeer,17 Nataliya Di Donato,18 Andreas ...

Novel Missense Mutation A789V in IQSEC2 Underlies X- ...Europe PMC

europepmc.org

Vera M. Kalscheuer,1,2,* Victoria M. James,3 Miranda L. Himelright,4 Philip Long,3 Renske Oegema,5 Corinna Jensen,1Melanie Bienek,1 Hao Hu,1 Stefan A. Haas ...

Novel Missense Mutation A789V in IQSEC2 Underlies X- ...Gale

go.gale.com

Kalscheuer, Vera M., Victoria M. James, Miranda L. Himelright, Philip Long, Renske Oegema, Corinna Jensen, Melanie Bienek, et al.

THOC2 mutations implicate mRNA-Export pathway in X- ...Monash University

research.monash.edu

... Anna Kathleen Hackett, Michael Field, Elizabeth E Palmer, Melanie Leffler, Carolyn J Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen Show 11 more

Altmetric – Mutations in DDX3X Are a Common Cause of Unexplained...

www.altmetric.com

... Hilde Van Esch, Connie Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gecz, Eric Haan, Melanie Bienek, ...

Ute Fischer's research works | Max Planck Institute for ...ResearchGate

www.researchgate.net

Melanie Bienek · Vera M. Kalscheuer. Top journals. Human Mutation (3) · Molecular Psychiatry (3) · neurogenetics (1) · Journal of Evolutionary Biology (1).

ZC4H2 Mutations Are Associated with Arthrogryposis ...Altmetric

www.altmetric.com

... Melanie Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, ...

Altmetric – THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked...

www.altmetric.com

... Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, ...

Mutation of plasma membrane CaPNAS

www.pnas.org

— Charles. Schwartz for help and advice, Melanie Bienek and Corinna Jensen for NGS, and Stefan Haas for help with NGS data analysis. This work was ...