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Publications by Carlos R. Ferreira
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
Phenotype and Mutation Expansion of the PTPN23 Associated Disorder Characterized by Neurodevelopmental Delay and Structural Brain Abnormalities
European Journal of Human Genetics
Genetics
Combined Alpha-Delta Platelet Storage Pool Deficiency Is Associated With Mutations in GFI1B
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)
Frontiers in Neurology
Neurology
Corrigendum to “The Human Phenotype of Ornithine Decarboxylase Superactivity: A New Syndrome”
American Journal of Medical Genetics, Part A
Genetics
