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Stefanie Sollfrank

Showing results (1-10 of 8) with videos related to

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Studies in Health Technology and Informatics|May 17, 2017
Supporting Molecular Tumor Boards in Molecular-Guided Decision-Making - The Current Status of Five German University HospitalsMarc Hinderer, Melanie Boerries, Florian Haller, et al.
Molecular Genetics and Metabolism|March 31, 2020
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibitionFriederike Häuser, Seyfullah Gökce, Gesa Werner, et al.
Clinical Chemistry and Laboratory Medicine|February 11, 2018
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technologyAnne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, et al.
Cancers|April 12, 2022
Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial InsulinomatosisChristian Fottner, Stefanie Sollfrank, Mursal Ghiasi, et al.
Cells|October 14, 2022
Novel <i>GATA1</i> Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a <i>SLC4A1</i> VariantKerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, et al.
The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*)Julia K Bickmann, Stefanie Sollfrank, Arno Schad, et al.
Journal of Thrombosis and Haemostasis : JTH|March 24, 2020
Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalenceStefano Barco, Stefanie Sollfrank, Alice Trinchero, et al.
Journal of Thrombosis and Haemostasis : JTH|January 26, 2023
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalenceAnke Adenaeuer, Stefano Barco, Alice Trinchero, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Studies in Health Technology and Informatics|May 17, 2017
Supporting Molecular Tumor Boards in Molecular-Guided Decision-Making - The Current Status of Five German University HospitalsMarc Hinderer, Melanie Boerries, Florian Haller, et al.
Molecular Genetics and Metabolism|March 31, 2020
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibitionFriederike Häuser, Seyfullah Gökce, Gesa Werner, et al.
Clinical Chemistry and Laboratory Medicine|February 11, 2018
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technologyAnne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, et al.
Cancers|April 12, 2022
Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial InsulinomatosisChristian Fottner, Stefanie Sollfrank, Mursal Ghiasi, et al.
Cells|October 14, 2022
Novel <i>GATA1</i> Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a <i>SLC4A1</i> VariantKerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, et al.
The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*)Julia K Bickmann, Stefanie Sollfrank, Arno Schad, et al.
Journal of Thrombosis and Haemostasis : JTH|March 24, 2020
Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalenceStefano Barco, Stefanie Sollfrank, Alice Trinchero, et al.
Journal of Thrombosis and Haemostasis : JTH|January 26, 2023
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalenceAnke Adenaeuer, Stefano Barco, Alice Trinchero, et al.
Pageof 1