Comparison of the Copan WASPLab incorporating the BioRad expert system against the SIRscan 2000 automatic for routine antimicrobial disc diffusion susceptibility testing
Cherkaoui, A., Renzi, G., Fischer, A., Azam, N., Schorderet, D., Vuilleumier, N., Schrenzel, J.
Published in Clinical microbiology and infection (01.05.2020)
Published in Clinical microbiology and infection (01.05.2020)
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Journal Article
Potential blindness in children of patients with hereditary bone disease
Kheir, V., Munier, F. L., Aubry-Rozier, B., Schorderet, D. F.
Published in Osteoporosis international (01.02.2016)
Published in Osteoporosis international (01.02.2016)
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Journal Article
A novel mutation in CNNM4 (G492C) associated with Jalili Syndrome
Lopez Torres, L.T., Schorderet, D., Valmaggia, C., Todorova, M.
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
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Journal Article
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5
Wider, C, Melquist, S, Hauf, M, Solida, A, Cobb, S A, Kachergus, J M, Gass, J, Coon, K D, Baker, M, Cannon, A, Stephan, D A, Schorderet, D F, Ghika, J, Burkhard, P R, Kapatos, G, Hutton, M, Farrer, M J, Wszolek, Z K, Vingerhoets, F J G
Published in Neurology (15.04.2008)
Published in Neurology (15.04.2008)
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Journal Article
A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis
Abouzeid, H, Othman, I S, Schorderet, D F
Published in Klinische Monatsblatter fur Augenheilkunde (01.04.2016)
Published in Klinische Monatsblatter fur Augenheilkunde (01.04.2016)
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Journal Article
Prominent Optic Disc Featured in Inherited Retinopathy
Todorova, M G, Bojinova, R I, Valmaggia, C, Schorderet, D F
Published in Klinische Monatsblatter fur Augenheilkunde (01.04.2017)
Published in Klinische Monatsblatter fur Augenheilkunde (01.04.2017)
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Journal Article
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa
Habibi, I., Chebil, A., Kort, F., Munier, F., Schorderet, D., El Matri, L.
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
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Journal Article
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
Korvatska, Elena, Schorderet, Daniel F, Zografos, Leonidas, Pescia, Graziano, Paslier, Denis Le, Munier, Francis L, Djemaï, Assia
Published in Nature genetics (01.03.1997)
Published in Nature genetics (01.03.1997)
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Journal Article
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Vandenburgh, Kimberlie, Mackey, David A, Stone, Edwin M, Héon, Elise, Piguet, Bertrand, Silvestri, Giuliana, Bird, Alan C, Lotery, Andrew J, Guymer, Robyn H, Nishimura, Darryl, Schorderet, Daniel F, Munier, Francis L, Hageman, Gregory S, Sheffield, Val C, Cousin, Pascal, Swiderski, Ruth E
Published in Nature genetics (01.06.1999)
Published in Nature genetics (01.06.1999)
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Journal Article
ERK1/2 pathway is activated in degenerated Rpe65-deficient mice
Métrailler, S., Emery, M., Schorderet, D.F., Cottet, S., Roduit, R.
Published in Experimental eye research (01.11.2013)
Published in Experimental eye research (01.11.2013)
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Journal Article
A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia
Borsello, Tiziana, Clarke, Peter G H, Hirt, Lorenz, Vercelli, Alessandro, Repici, Mariaelena, Schorderet, Daniel F, Bogousslavsky, Julien, Bonny, Christophe
Published in Nature medicine (01.09.2003)
Published in Nature medicine (01.09.2003)
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Journal Article
Circadian regulation of islet genes involved in insulin production and secretion
Allaman-Pillet, N., Roduit, R., Oberson, A., Abdelli, S., Ruiz, J., Beckmann, J.S., Schorderet, D.F., Bonny, C.
Published in Molecular and cellular endocrinology (29.10.2004)
Published in Molecular and cellular endocrinology (29.10.2004)
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Journal Article
Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma
Jakobsson, C, Kheir, V, Munier, F L, Schorderet, D F
Published in Klinische Monatsblatter fur Augenheilkunde (01.04.2015)
Published in Klinische Monatsblatter fur Augenheilkunde (01.04.2015)
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Journal Article
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter
Neufeld, Ellis J, Fleming, Judith C, Tartaglini, Elena, Steinkamp, Mara P, Schorderet, Daniel F, Cohen, Nadine
Published in Nature genetics (01.07.1999)
Published in Nature genetics (01.07.1999)
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Journal Article
Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina
KOSTIC, C, CHIODINI, F, ARSENIJEVIC, Y, SALMON, P, WIZNEROWICZ, M, DEGLON, N, HORNFELD, D, TRONO, D, AEBISCHER, P, SCHORDERET, D. F, MUNIER, F. L
Published in Gene therapy (01.05.2003)
Published in Gene therapy (01.05.2003)
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