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Your search keyword '"Schiffmann, Raphael"' showing total 8 results

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8 results on '"Schiffmann, Raphael"'

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1. Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

2. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

3. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

4. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

7. Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

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