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Gastrointestinal phenotype of ATR-X syndrome.
UploadGenotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy
Download from www.ncbi.nlm.nih.govThe Italian Pilot project of the NF Register
UploadRespiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients
Download from onlinelibrary.wiley.comInfantile Mitochondria Encephalomyopathies: Report on 4 Cases
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