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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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Redefining the MED13L syndrome
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
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BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients
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Limbic encephalitis as presentation of a SAP deficiency
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Two siblings with early presentation of Vanishing White Matter disease