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Publications by Raphael Schiffmann
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
American Journal of Human Genetics
Genetics
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
American Journal of Human Genetics
Genetics
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415
American Journal of Human Genetics
Genetics
Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings
Annals of Neurology
Neurology
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Unique Molecular Signature in Mucolipidosis Type IV Microglia
Journal of Neuroinflammation
Molecular Neuroscience
Neurology
Immunology
Cellular
Neuroscience
Long-Term Follow Up and Sudden Unexpected Death in Gaucher Disease Type 3 in Egypt
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Safety of Switching to Migalastat From Enzyme Replacement Therapy in Fabry Disease: Experience From the Phase 3 ATTRACT Study
American Journal of Medical Genetics, Part A
Genetics
Altered Dopamine and Serotonin Metabolism in Motorically Asymptomatic R6/2 Mice
PLoS ONE
Multidisciplinary
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