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Developmental Medicine and Child Neurology|November 21, 2008
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutationOliver Fuchs, Nicole Pfarr, Joachim Pohlenz, et al.
Oncology Research and Treatment|December 7, 2021
PD-1 Blockade Elicits Ongoing Remission in Two Cases of Refractory Microsatellite-Stable Cancer Harboring a POLE MutationKristina Schenck, Michael Masetti, Nicole Pfarr, et al.
Acta Paediatrica (Oslo, Norway : 1992)|November 30, 2006
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)Joachim Pohlenz, Nicole Pfarr, Silvia Krüger, et al.
Thyroid : Official Journal of the American Thyroid Association|January 27, 2005
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor geneAnnette Richter-Unruh, Berthold P Hauffa, Nicole Pfarr, 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.
BMC Bioinformatics|April 28, 2018
Ioncopy: an R Shiny app to call copy number alterations in targeted NGS dataJan Budczies, Nicole Pfarr, Eva Romanovsky, et al.
Clinical Endocrinology|May 3, 2006
Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) geneNicole Pfarr, Thomas J Musholt, Petra B Musholt, et al.
Seminars in Cancer Biology|November 10, 2020
Next-generation diagnostics for precision oncology: Preanalytical considerations, technical challenges, and available technologiesWencke Walter, Nicole Pfarr, Manja Meggendorfer, et al.
Pathology|April 24, 2019
Several genotypes, one phenotype: PIK3CA/AKT1 mutation-negative hidradenoma papilliferum show genetic lesions in other components of the signalling networkNicole Pfarr, Michael Allgäuer, Katja Steiger, et al.
NAR Cancer|October 21, 2022
The limits of molecular signatures for pancreatic ductal adenocarcinoma subtypingManuela Lautizi, Jan Baumbach, Wilko Weichert, et al.
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