Department of Pediatrics and medical genetics (ceased 1-10-2018)
5468 publications
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Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
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The 'External Genitalia Score' to describe external genitalia in male and female infants : a European multicenter validation study
(2018) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 90(Supplement 1). p.544-545 -
- Conference Paper
- C3
- open access
Paediatric drug development : an opportunity for academia to close the gap
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- Conference Paper
- C3
- open access
Concentrations of representative uraemic toxins in a healthy versus non-dialysis chronic kidney diseases paediatric population
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- Conference Paper
- C3
- open access
IMI2 call 10 topic 4: creation of a pan-European paediatric clinical trial network
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- Conference Paper
- C3
- open access
Glomerular hyperfiltration : a new concept in critically ill children
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- Conference Paper
- C3
- open access
Renal tubular dysgenesis in premature newborn
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- Conference Paper
- C3
- open access
Familial nephrotic syndrome due to MCD with diffuse mesangial hypercelluality in twin girls
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- Conference Paper
- C3
- open access
The influence of socioeconomic status in enuresis
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- Conference Paper
- C3
- open access
Value of renal bladder ultrasound in diagnosing vesico ureteral reflux