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- Journal Article
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- open access
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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FOXP1-related intellectual disability syndrome : a recognisable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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- Journal Article
- A2
- open access
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome