N. Chmel'

发表

Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa.

C. Has, J. Kohlhase, I. Hausser, 2017, The Journal of investigative dermatology.

Induction of phenotype modifying cytokines by FERMT1 mutations

T. Kurz, M. Boerries, H. Busch, 2011, Human mutation.

A case of mosaicism in ectodermal dysplasia–skin fragility syndrome

R. Happle, C. Has, A. Torrelo, 2017, The British journal of dermatology.

FERMT1 promoter mutations in patients with Kindler syndrome

L. Levati, C. Has, G. Zambruno, 2015, Clinical genetics.

Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.

T. Jakob, J. Fischer, C. Has, 2016, Acta dermato-venereologica.

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2015, The Journal of investigative dermatology.

Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.

T. Jakob, C. Has, L. Bruckner-Tuderman, 2013, The Journal of investigative dermatology.

A COL7A1 variant leading to in‐frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

C. Has, L. Weibel, A. Schwieger-Briel, 2015, The British journal of dermatology.

Induction of phenotype modifying cytokines by FERMT1 mutations

T. Kurz, M. Boerries, H. Busch, 2011, Human mutation.

FERMT1 promoter mutations in patients with Kindler syndrome

L. Levati, C. Has, G. Zambruno, 2015, Clinical genetics.