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Publications by Aurélien Trimouille
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
Pathology
Neurology
Cellular
Deletion in 2q35 Excluding the IHH Gene Leads to Fetal Severe Limb Anomalies and Suggests a Disruption of Chromatin Architecture
European Journal of Human Genetics
Genetics
Related publications
Sox2 Conditional Mutation in Mouse Causes Ataxic Symptoms, Cerebellar Vermis Hypoplasia, and Postnatal Defects of Bergmann Glia
GLIA
Molecular Neuroscience
Neurology
Cellular
Genetic Hypothyroid Mice: Normal Cerebellar Morphology but Altered Glycerol-3-Phosphate Dehydrogenase in Bergmann Glia
Journal of Neuroscience
Neuroscience
Oculopalatal Tremor and Severe Late-Onset Cerebellar Ataxia
Neurology
Neurology
Correlative Microscopy of Cerebellar Bergmann Glial Cells
Microscopy and Microanalysis
Instrumentation
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
Genetics
EP02.16: Case of Hypoplasia Cerebellar Vermis With Dynamic Ventriculomegaly Change
Ultrasound in Obstetrics and Gynecology
Nuclear Medicine
Radiology
Ultrasound Technology
Gynecology
Reproductive Medicine
Radiological
Imaging
Obstetrics
Medicine
Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Siblings of Individuals With an Autism Spectrum Disorder
Autism
Developmental
Educational Psychology
Severe Mycobacterial Infections in Two Pairs of Chinese Siblings With Interleukin-12 Receptor Β1 Deficiency
European Journal of Pediatrics
Child Health
Pediatrics
Perinatology