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Dernières publications

Pubmed
2018
CRX-linked macular dystrophy with intrafamilial variable expressivity.

Romdhane K, Vaclavik V, Schorderet DF, Munier FL, Tran V.
Ophthalmic Genet. 39(5):637-641,2018

Pubmed
2019
Novel PDE6B mutation presenting with retinitis pigmentosa – a case series of three patients.
Palmowski A, Stingle K, Habibi I, Schorderet D, Tran HV.
Klin Monbl Augenheilkd 2019, epub ahead of print

Pubmed
2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Hum Mutat. 2019 [Epub ahead of print]

Pubmed
2019
Mutation update : TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V, Cortés-Gonzalez V, Zenteno JC, Schorderet DF.
Human mutation 2019 (Epub ahead of print)

Pubmed
2019
Analysis of inherited optic neuropathies.
Lazdinyte S, Schorderet DF, Schaller A, Valmaggia C, Todorova MG.
Klin Monbl Augenheilkd 2019 (Epub ahead of print)