Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Claudio Plaisant

Foetal Onset of EIF2B Related Disorder in Two Siblings: Cerebellar Hypoplasia With Absent Bergmann Glia and Severe Hypomyelination

Acta neuropathologica communications

Forensic Medicine

Molecular Neuroscience

English

Mild Form of Oculocutaneous Albinism Type 1: Phenotypic Analysis of Compound Heterozygous Patients With the R402Q Variant of the TYR Gene

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Related publications

Sox2 Conditional Mutation in Mouse Causes Ataxic Symptoms, Cerebellar Vermis Hypoplasia, and Postnatal Defects of Bergmann Glia

Molecular Neuroscience

English

Genetic Hypothyroid Mice: Normal Cerebellar Morphology but Altered Glycerol-3-Phosphate Dehydrogenase in Bergmann Glia

Journal of Neuroscience

English

Oculopalatal Tremor and Severe Late-Onset Cerebellar Ataxia

English

Correlative Microscopy of Cerebellar Bergmann Glial Cells

Microscopy and Microanalysis

Instrumentation

English

Family Risk and Related Education and Counseling Needs: Perceptions of Adults With Bipolar Disorder and Siblings of Adults With Bipolar Disorder

American Journal of Medical Genetics, Part A

English

EP02.16: Case of Hypoplasia Cerebellar Vermis With Dynamic Ventriculomegaly Change

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum

Orphanet Journal of Rare Diseases

English

Siblings of Individuals With an Autism Spectrum Disorder

Educational Psychology

English

Severe Mycobacterial Infections in Two Pairs of Chinese Siblings With Interleukin-12 Receptor Β1 Deficiency

European Journal of Pediatrics

English