Search Results - "Schijns, Josephine"
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A conservative approach in a child with haematuria after accidental rectal impalement trauma
Published in African journal of paediatric surgery (01-07-2015)“…We present a case of an 11-year-old boy with haematuria after traumatic rectal insertion of a sharp metal stick. It demonstrates that an expectative management…”
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Published in HGG advances (10-10-2024)Get full text
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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Published in Human mutation (01-11-2022)“…An expanding range of genetic syndromes are characterized by genome‐wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures…”
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Long-term motor and behavioral outcome after perinatal hypoxic-ischemic encephalopathy
Published in European journal of paediatric neurology (01-05-2015)“…Abstract Background A cohort of children born with perinatal hypoxic-ischemic encephalopathy (HIE) was followed prospectively until school age. Aims To…”
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