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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
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IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
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Bruck syndrome: neonatal presentation and natural course in three patients.
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X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus
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Neonatal adrenoleukodystrophy (NALD) with decreased docosahexaenoic acid C 22:6 CU 3: Follow up studies of a 9 year-old boy with prolonged survival. SSIEM 30th Annual Symposium, Leuven, 1992, 8-11 september, p. 155.
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Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal b-oxidation. Neuromusc. Disorder, 2, 217-224, (1992), 10 figg.