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dr-helga-v-toriello documents
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Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?
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Possible causal heterogeneity in spina bifida cystica
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Familial occurrence of a developmental defect of the medial nasal processes
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Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome)
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Heterogeneity and variability in the oral-facial-digital syndromes
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Restrictive dermopathy and report of another case
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Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome?
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New syndromes from old: Evaluation of heterogeneity and variability in syndrome definition and delineation
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Provisionally unique autosomal recessive chondrodysplasia punctata syndrome