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Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease.
Transcriptional Control of Synaptic Remodeling through Regulated Expression of an Immunoglobulin Superfamily Protein.
Two prospective educational interventions in a neurology residency: effect on RITE performance.
Wieacker-Wolff syndrome with associated cleft palate in a female case.
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Wieacker-Wolff syndrome with associated cleft palate in a female case.
Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM. Wieacker-Wolff syndrome with associated cleft palate in a female case. Am J Med Genet A. 2018 01; 176(1):167-170.
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PubMed
subject areas
Apraxias
Carrier Proteins
Child, Preschool
Chromosomes, Human, X
Cleft Palate
Contracture
Facies
Female
Genetic Association Studies
Genetic Diseases, X-Linked
Genetic Testing
Humans
Intracellular Signaling Peptides and Proteins
Muscular Atrophy
Mutation
Nuclear Proteins
Ophthalmoplegia
Pedigree
Phenotype
authors with profiles
Douglas M Rothkopf MD