Robert Hufnagel to Hearing Loss
This is a "connection" page, showing publications Robert Hufnagel has written about Hearing Loss.
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clin Genet. 2023 06; 103(6):699-703.
Score: 0.217
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 10 07; 108(10):2006-2016.
Score: 0.196
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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325.
Score: 0.047
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MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells. Dis Model Mech. 2015 Dec; 8(12):1543-53.
Score: 0.033
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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct; 164A(10):2607-12.
Score: 0.030