Pediatría
Departamento
University Hospital of Bern
Berna, SuizaPublicaciones en colaboración con investigadoras/es de University Hospital of Bern (8)
2024
2023
2020
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Acute severe paediatric asthma: Study protocol for the development of a core outcome set, a Pediatric Emergency Reserarch Networks (PERN) study
Trials, Vol. 21, Núm. 1
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Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1
International Journal of Molecular Sciences, Vol. 21, Núm. 22, pp. 1-18
2018
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GATA4 variants in individuals with a 46,XY Disorder of Sex Development (DSD) may or may not be associated with cardiac defects depending on second hits in other DSD genes
Frontiers in Endocrinology, Vol. 9, Núm. APR
2017
2014
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1
2006
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Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
American Journal of Human Genetics, Vol. 79, Núm. 5, pp. 949-957