Amy Goldstein
- The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
2011/03/25 by Fanny Kortüm, Soma Das, Max Flindt +22 · 28 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
2019/01/25 by Sumit Parikh, Amel Karaa, Amy Goldstein +27 · 21 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #Infectious Encephalopathies and Encephalitis