10 results on '"Schmitt, Eric"'
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2. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
3. Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
4. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
5. Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders
6. Molecular characterization of CPS1 deletions by array CGH
7. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
8. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
9. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion
10. Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays
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