E. Rohmann

发表

BTNL2 gene variant and sarcoidosis

A. Gillissen, B. Wollnik, C. Grohé, 2006, Thorax.

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease

B. Wollnik, C. Grohé, H. Vetter, 2007, Clinical Research in Cardiology.

Mutations in different components of FGF signaling in LADD syndrome

C. Cremers, H. Brunner, H. Kayserili, 2006, Nature Genetics.

Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway

V. P. Eswarakumar, I. Lax, J. Schlessinger, 2007, Molecular and Cellular Biology.

Activating Somatic FGFR2 Mutations in Breast Cancer

R. Schmutzler, Yun Li, B. Wollnik, 2013, PloS one.

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

S. Kamaci, E. Uz, T. Ozcelik, 2007, British Journal of Ophthalmology.

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation

J. Schlessinger, B. Wollnik, J. Bae, 2007, Proceedings of the National Academy of Sciences.

Reduction of PCR-amplifiable DNA by ethylene oxide treatment of forensic consumables.

K. Neureuther, R. Jacobs, I. Bastisch, 2014, Forensic science international. Genetics.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.