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Expert Review of Endocrinology & Metabolism|November 15, 2022
Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndromeThomas Eggermann, Dirk Prawitt
Frontiers in Genetics|June 19, 2024
Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challengesDirk Prawitt, Thomas Eggermann
Expert Reviews in Molecular Medicine|July 18, 2006
Beckwith-Wiedemann syndrome: multiple molecular mechanismsThorsten Enklaar, Bernhard U Zabel, Dirk Prawitt
Cancers|July 9, 2022
Molecular Basis of Beckwith-Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical PracticeThomas Eggermann, Eamonn R Maher, Christian P Kratz, et al.
Klinische Padiatrie|April 17, 2018
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]Miriam Elbracht, Dirk Prawitt, Rebekka Nemetschek, et al.
Islets|November 25, 2010
Adding efficiency: the role of the CAN ion channels TRPM4 and TRPM5 in pancreatic isletsThorsten Enklaar, Lili R Brixel, Bernhard U Zabel, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 27, 2009
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four childrenDiemud Simm, Nicole Pfarr, Joachim Pohlenz, et al.
The Journal of Clinical Endocrinology and Metabolism|January 15, 2002
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit geneJoachim Pohlenz, Alexandra Dumitrescu, Ulrich Aumann, et al.
Scientific Reports|January 23, 2026
Expression, transport, and storage of fetuin-B in human granulosa cellsBartosz Linek, Ann-Christin Meyer, Carmen Schoppe, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 25, 2003
TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]iDirk Prawitt, Mahealani K Monteilh-Zoller, Lili Brixel, et al.
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