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Les enfants énurétiques avec une capacité vesicale petite comme sele signe clinique : pas d'énurésie nocturne monosymptomatique?
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Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes
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Numerieke chromosomale afwijkingen in zaadcellen van patiënten met oligosthenoateratozoospermia
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Osteogenesis imperfects phenotypes resulting from serine for glycine substitutions in the α2(I) collagen chain
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Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.
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Monosomy 22 in a mixed germ cell sex cord stromal tumor of the ovary
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Correlation of ultrastructural collagen fibril aberrations with a mutation in the COL5A1 gene in Ehlers-Danlos syndrome type I
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Autopsy diagnosis of the Smith-Lemli-Opitz syndrome
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Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II
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Orofacial and dental aspects of Marfan syndrome