em. prof. dr. Juliaan Leroy
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Oligosaccharidoses and allied disorders
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Disorders of lysosomal enzymes: clinical phenotypes.
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A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
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Expression of the multidrug transporter P-glycoprotein is highly correlated with clinical outcome in childhood acute lymphoblastic leukemia: Results of a long-term prospective study.
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Dominant inheritance of sialuria, an inborn error of feedback inhibition.
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Imaging studies in the diagnostic workup of neonatal nasal obstruction.
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Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
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Lip en/of gehemeltespleet: componenten in een vloeidiagram van multidisciplinaire aanpak
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- Journal Article
- A1
- open access
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
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Articulation in Beckwith-Wiedemann syndrome: Two case studies.
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Pediatrische aanpak bij Groep B streptococcen infecties
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P-Glycoproteine in de aanpak van chemotherapieresistentie.
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Discrepant flow cytometric expression and function of P-glycoprotein in neuroblastic tumors
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Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
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The Meier-Gorlin syndrome, or ear patella short stature syndrome, in sibs.
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Macroglossia and speech in Beckwith-Wiedemann syndrome: a sample survey study.
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De genetica in het jaar 2000
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Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.
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Bruck syndrome: neonatal presentation and natural course in three patients.
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MRI findings in a neonate with cerebellar agenesis.