Concepedia

Denise Emmerich

DE

6

Publications

215

Citations

6

H-Index

2014

Active since

Affiliations

Max Planck Institute for Molecular Genetics(Current)

Charité - Universitätsmedizin Berlin

Berlin-Brandenburger Centrum für Regenerative Therapien

Innsbruck Medical University

University Hospital Carl Gustav Carus

Denise Emmerich is an author at Max Planck Institute for Molecular Genetics specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

2014–2015

6

Publications

6

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht et al. · European Journal of Human Genetics · 2014 · 71 citations · Full text

, , +6

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting

Johannes Egerer, Denise Emmerich, Björn Fischer‐Zirnsak et al. · Journal of Investigative Dermatology · 2015 · 36 citations · Full text

, , +5

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

Thorsten Pfirrmann, Denise Emmerich, Peter Ruokonen et al. · Human Molecular Genetics · 2015 · 35 citations · Full text

Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1

Jirko Kühnisch, Jong Seto, Claudia Lange et al. · PLoS ONE · 2014 · 34 citations · Full text

, , +18

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Denise Emmerich, Tomasz Żemojtel, Jochen Hecht et al. · European Journal of Human Genetics · 2014 · 28 citations · Full text

, , +6

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