Publications by authors named "P R Seeman"

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Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Barbora Lauerova, Radim Mazanec, Katja Eggerman, Dana Safka Brozkova, Annette Lischka, Pavel Seeman

Eur J Med Genet· December 2025

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Pavel Seeman

Brain· October 2025

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Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Pavel Seeman

medRxiv· October 2025

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Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova

Eur J Paediatr Neurol· January 2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Pavel Seeman

Brain· December 2023

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