Presentation
Scientific Publications
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2020Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2020Journal (source)Hum Mol Genet
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høy...
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2019Journal (source)Blood
Pediatric Evans syndrome is associated with a high frequency of potentially d...
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2018Journal (source)J Crohns Colitis
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato...
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2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano...
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2017Journal (source)J. Med. Genet.
No correlation between mtDNA amount and methylation levels at the CpG island ...