B. Roesler

发表

SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders

D. Chitayat, T. Montgomery, J. Kohlhase, 2005, Human mutation.

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A

R. Happle, J. Fischer, Marc-Alexander Rauschendorf, 2018, Pigment cell & melanoma research.

A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation

J. Kohlhase, P. Terhal, B. Roesler, 2006, American journal of medical genetics. Part A.

SALL1 mutation analysis in Townes‐Brocks syndrome: twelve novel mutations and expansion of the phenotype

A. Green, J. Mcgaughran, M. Whiteford, 2005, Human mutation.

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

J. Fischer, B. Bouadjar, P. Kirchmeier, 2017, Acta dermato-venereologica.

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.

Whole‐exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

M. Barenboim, J. Fischer, T. Manke, 2016, The British journal of dermatology.

Association of Cole disease with novel heterozygous mutations in the somatomedin‐B domains of the ENPP1 gene: necessary, but not always sufficient

W. Peitsch, A. Schmieder, J. Fischer, 2016, The British journal of dermatology.

Novel compound heterozygous synaptojanin‐1 mutation causes l‐dopa‐responsive dystonia‐parkinsonism syndrome

C. Weiller, S. Klebe, M. Rijntjes, 2017, Movement disorders : official journal of the Movement Disorder Society.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

H. Arnold, M. Wegner, G. Camerino, 2015, Journal of Medical Genetics.