Britta Seebauer
Basel, BS, Switzerland
Last Updated: 09/26/2026
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Found 8 publications
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
Journal: Molecular genetics & genomic medicine
Published: October 30, 2023
Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.
Journal: International journal of molecular sciences
Published: December 13, 2021
Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.
Journal: Thyroid : official journal of the American Thyroid Association
Published: April 30, 2019
Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 27, 2019
Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina.
Journal: Scientific reports
Published: July 25, 2017
Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.
Journal: PloS one
Published: March 29, 2017
Functional Polymorphisms in Dopaminergic Genes Modulate Neurobehavioral and Neurophysiological Consequences of Sleep Deprivation.
Journal: Scientific reports
Published: December 02, 2016
Intra-familial phenotype variability in patients with Jalili syndrome.
Journal: Eye (London, England)
Published: January 24, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026