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Publications by Pierre Ellies

Truncating Mutations in the Carbohydrate Sulfotransferase 6 Gene (CHST6) Result in Macular Corneal Dystrophy

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2003English

Related publications

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

PLoS ONE
Multidisciplinary
2007English

CBP Truncating Mutations in Ovarian Cancer

Journal of Medical Genetics
Genetics
2005English

Macular Dystrophy in Heimler Syndrome

Ophthalmic Genetics
Child HealthOphthalmologyPediatricsPerinatologyGenetics
2011English

Excess of Rare, Inherited Truncating Mutations in Autism

Nature Genetics
Genetics
2015English

Clinical Course of Cone Dystrophy Caused by Mutations in the RPGR Gene

Graefe's Archive for Clinical and Experimental Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2011English

Cystoid Macular Dystrophy

2020English

Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2013English

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics
Genetics
2019English

Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2007English

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