Mary Buchta
University Medical Center Freiburg(DE)
Publications by Year
Research Areas
Immunodeficiency and Autoimmune Disorders, Cancer, Hypoxia, and Metabolism, Adrenal and Paraganglionic Tumors, Blood disorders and treatments, Pediatric health and respiratory diseases
Most-Cited Works
- → Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma(2004)387 cited
- → Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects(2013)187 cited
- → Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood(2017)128 cited
- → Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells(2015)78 cited
- → Molecular characterisation of a common SDHB deletion in paraganglioma patients(2007)74 cited
- → Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea(2017)27 cited
- → Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis(2021)25 cited
- → Capturing the Experience: Lessons of Consumers and Carers in Rural Mental Health Education(2015)8 cited
- → Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations(2022)3 cited
- [Polychlorinated biphenyls in human subepicardial fat].(1997)