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Publications by Eva Scheiffert

Early-Onset Autosomal Recessive Cerebellar Ataxia Associated With Retinal Dystrophy: New Human Hotfoot Phenotype Caused by Homozygous GRID2 Deletion

Genetics in Medicine

English

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Adult-Onset Autosomal Recessive Cerebellar Ataxia

English

Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

English

Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency

English

Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency

English

Further Delineation of the Phenotype Caused by a Novel Large Homozygous Deletion of GRID2 Gene in an Adult Patient

Clinical Case Reports

English

Correction: Autosomal Recessive Lissencephaly With Cerebellar Hypoplasia Is Associated With Human RELN Mutations

Nature Genetics

English

Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

Molecular Biology

English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica

English