D. Emmerich

发表

Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.

H. Kretzschmar, O. Windl, J. Cervós-Navarro, 1999, American journal of medical genetics.

GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

S. Mundlos, S. Sauer, Björn Fischer-Zirnsak, 2015, The Journal of investigative dermatology.

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

B. Seliger, P. Krawitz, E. Klopocki, 2015, Human molecular genetics.

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

P. Robinson, S. Mundlos, M. Spielmann, 2014, European Journal of Human Genetics.

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

S. Mundlos, P. Fratzl, G. Duda, 2014, PloS one.

The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.

K. Grzeschik, A. V. van Kessel, S. Wiese, 1997, DNA and cell biology.

Somatic neuro fi bromatosis type 1 ( NF 1 ) inactivation events in cutaneous neuro fi bromas of a single NF 1 patient

P. Robinson, S. Mundlos, M. Spielmann, 2014 .

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

S. Mundlos, H. Morreau, C. Ott, 2015, PloS one.

Antithrombin lll Mutation Database: First Update For the Thrombin and its lnhibitors Subcommittee of the Scientific and Standardization Gommittee of the lnternational Society on Thrombosis and Haemostasis

James L Olds, D. Cooper, M. Boisclair, 2018 .

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

P. Robinson, D. Horn, S. Mundlos, 2014, European Journal of Human Genetics.

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

P. Robinson, D. Horn, S. Mundlos, 2015, European Journal of Human Genetics.

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

B. Seliger, P. Krawitz, E. Klopocki, 2015, Human molecular genetics.