J. Bach

发表

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Wolfram Kress, Jan Bürmann, Joachim Weis, 2014, Orphanet Journal of Rare Diseases.

Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene

S. Rost, C. Müller, J. Bach, 2015, Thrombosis and Haemostasis.

Next‐generation DNA sequencing of a Swedish malignant hyperthermia cohort

S. Rost, C R Müller, S Rost, 2015, Clinical genetics.

Mutational spectrum and deep intronic variants in the factor VIII gene of haemophilia A patients

J. Oldenburg, S. Rost, C. Müller, 2016, Hämostaseologie.