Associated Papers
Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork Cells.
Wirtz MK et al.
Current Eye Research, 2022
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.
Salazar-Silva R et al.
Human Molecular Genetics, 2021
33326993 (PubMed )
Supplement: supplementary_material_figure_legends_and_supplementary_tables_ddaa240.doc
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.
Yuan JH et al.
Pain Reports, 0
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