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Browsing by Author "van Schouwenburg, Pauline A."

Browsing by Author "van Schouwenburg, Pauline A."

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    Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs 
    Framme, Jenny Lingman; Lundqvist, Christina; Lundell, Anna Carin; van Schouwenburg, Pauline A.; Lemarquis, Andri L.; Thörn, Karolina; Lindgren, Susanne; Gudmundsdottir, Judith; Lundberg, Vanja; Degerman, Sofie; Zetterström, Rolf H.; Borte, Stephan; Hammarström, Lennart; Telemo, Esbjörn; Hultdin, Magnus; van der Burg, Mirjam; Fasth, Anders; Oskarsdóttir, Sólveig; Ekwall, Olov (2022-01)
    Background: Population-based neonatal screening using T-cell receptor excision circles (TRECs) identifies infants with profound T lymphopenia, as seen in cases of severe combined immunodeficiency, and in a subgroup of infants with 22q11 deletion syndrome ...