em. prof. dr. Juliaan Leroy
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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects
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Klinische genetica, cytogenetica en moleculaire genetica
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Immunocytochemical staining of cultured fibroblasts is a valuable first line screening test for oxidative phosphorylation defects.
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Immunocytochemiscal staining of cultured fibroblasts is available first line screening test for oxidative phosphorylation.
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Aminoacylase I deficiency: A novel inborn error of metabolism
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Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
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A new type of autosomal recessive spondyloepiphyseal dysplasia tarda
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Ataxia oculomotor apraxia I
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Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
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Unfortunate oversight