em. prof. dr. Juliaan Leroy
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
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Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: a case report
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Klinische genetica, cytogenetica en moleculaire genetica
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Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
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Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
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Czech dysplasia metatarsal type: another type II collagen disorder