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FOXP1-related intellectual disability syndrome : a recognizable entity
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Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease
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Lipomas : an unexpected phenotype of mitochondrial DNA mutations
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Belgian Shwachman-Diamond syndrome cohort update: misdiagnosis as Jeune syndrome and CMV triggerd hemophagocytosis
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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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Congenital diaphragmatic eventration and bilateral ureterohydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature