Department of Forensic Science, Pathological Anatomy, Gynaecology and Obstetrics and Paediatrics
Department
University Medical Center Freiburg
Friburgo de Brisgovia, AlemaniaPublications in collaboration with researchers from University Medical Center Freiburg (17)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2022
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A collaborative exercise on DNA methylation-based age prediction and body fluid typing
Forensic Science International: Genetics, Vol. 57
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Improving empiric antibiotic prescribing in pediatric bloodstream infections: a potential application of weighted-incidence syndromic combination antibiograms (WISCA)
Expert Review of Anti-Infective Therapy, Vol. 20, Núm. 3, pp. 445-456
2021
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Aetiology of acute respiratory infection in preschool children requiring hospitalisation in Europe-results from the PED-MERMAIDS multicentre case-control study
BMJ Open Respiratory Research, Vol. 8, Núm. 1
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Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown
Frontiers in Pediatrics, Vol. 9
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Glycogen storage disease type Ia: Current management options, burden and unmet needs
Nutrients, Vol. 13, Núm. 11
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Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
The Lancet Diabetes and Endocrinology, Vol. 9, Núm. 7, pp. 427-435
2017
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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Nature Communications, Vol. 8
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48
2015
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Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1
2014
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A global analysis of Y-chromosomal haplotype diversity for 23 STR loci
Forensic Science International: Genetics, Vol. 12, pp. 12-23
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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
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Synaptic, transcriptional and chromatin genes disrupted in autism
Nature, Vol. 515, Núm. 7526, pp. 209-215
2013
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Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia
Nature Genetics, Vol. 45, Núm. 8, pp. 868-876
2012
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A cautionary note on switching mitochondrial DNA reference sequences in forensic genetics
Forensic Science International: Genetics
2010
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Management of phenylketonuria in Europe: Survey results from 19 countries
Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115
2004
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Artificial recombination in forensic mtDNA population databases
International Journal of Legal Medicine, Vol. 118, Núm. 5, pp. 267-273