Presentation
Scientific Publications
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2020
Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
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2020
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høy..., Hum Mol Genet
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2018
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato..., J Crohns Colitis
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2017
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol
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2016
Recurrent KIF2A mutations are responsible for classic lissencephaly., Neurogenetics