11 results on '"Gärtner, Jutta"'
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2. Molecular Analysis of SUMF1 Mutations: Stability and Residual Activity of Mutant Formylglycine-Generating Enzyme Determine Disease Severity in Multiple Sulfatase Deficiency
3. Identification of Novel Mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger Spectrum Patients
4. The Cystathionine Beta-Synthase Variant c.844_845ins68 Protects Against CNS Demyelination in X-linked Adrenoleukodystrophy
5. Molecular analysis ofSUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency
6. Identification of novel mutations inPEX2,PEX6,PEX10,PEX12, andPEX13in Zellweger spectrum patients
7. Identification of ten novel mutations in patients with eIF2B-related disorders
8. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease
9. Sequence diversity ofKIAA0027/MLC1:are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
10. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in theL1CAMgene
11. Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
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