S. Sollfrank

发表

Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial Insulinomatosis

K. Lackner, H. Rossmann, M. Miederer, 2022, Cancers.

Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence

B. Lämmle, K. Lackner, H. Rossmann, 2020, Journal of thrombosis and haemostasis : JTH.

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.

K. Lackner, H. Rossmann, E. Mengel, 2020, Molecular genetics and metabolism.

Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant

M. Schaller, K. Lackner, H. Rossmann, 2022, Cells.

Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

K. Lackner, H. Rossmann, W. Mann, 2014, The Journal of clinical endocrinology and metabolism.

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

K. Lackner, H. Rossmann, M. Claustres, 2018, Clinical chemistry and laboratory medicine.

Supporting Molecular Tumor Boards in Molecular-Guided Decision-Making - The Current Status of Five German University Hospitals

Marc Hinderer, Melanie Boerries, Till Acker, 2017, eHealth.

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

B. Lämmle, K. Lackner, H. Rossmann, 2022, Journal of thrombosis and haemostasis : JTH.

Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).

K. Lackner, H. Rossmann, W. Mann, 2014, The Journal of clinical endocrinology and metabolism.