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Differences in clinical research between children and adults
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Mannose-binding lectin (MBL2) polymorphisms are associated with susceptibility to recurrent otitis media (rOM)
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Mannose-binding lectin (MBL2) polymorphisms in rheumatoid arthritis (RA) are not associated with susceptibility or radiological progression rate
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Mannose-binding lectin (MBL2) polymorphisms in rheumatoid arthritis (RA) are not associated with susceptibility or radiological progression rate
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Mannose-binding lectin (Mbl2) polymorphisms in rheumatoid arthritis are not associated with susceptibility, radiological progression rate, or serological markers
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Mannose-binding lectin (MBL) genetic susceptibility for Alzheimer's disease
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A mild skeletal dysplasia with acanthosis nigricans due to a K650Q mutation in the FGFR3 gene.
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Homozygosity for G530S in COL5A1 in a patient with the classical type of Ehlers-Danlos syndrome (EDS).
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Mutations in the gene for collagen type III: phenotypic spectrum and genotype-phenotype correlation
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Study of a type III collagen protein defect in a patient with ecchymotic EDS: importance of the analysis of non-cutaneous connective tissues
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Substitution of Gly 769 by serine in collagen type III in a three generation family showing variable expressivity of EDS type IV. Proceed. 5th Internat. Conference on osteogenesis imperfecta, 1993, pp. 114-115.
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Epidermolyse bulleuse prétibiale avec lésions lichénoides: liaison au gène du collagène de type VII, Coc 7A1. Ann. Dermatol. Venéréol., 121, 5106, 1994.
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Congenital bowing of long bones: a retrospective feature in a dominant syndromal type of shorte stature. Chapter 23 in 'Dysmorphology and Genetics of Cardiovascular Disorders', Bartsocas CS, Beighton P, Eds., HTA Medical Publications, Athens, 1994, pp. 158-165.