Primary Immunodeficiencies and Hematologic Malignancies: A Diagnostic Approach

por Chandra, Sharat, Kalashnikova, Tatiana, Wright, Nicola A. M., Dávila Saldaña, Blachy J.
Publicado 2022

Secondary Reporting of G6PD Deficiency on Newborn Screening

por Hoang, Stephanie C., Blumenschein, Pamela, Lilley, Margaret, Olshaski, Larissa, Bruce, Aisha, Wright, Nicola A. M., Ridsdale, Ross, Christian, Susan
Publicado 2023

Case report: Blotchy skin in a puffy neonate: is there a new association?

por Joseph, Chacko J., Lodha, Arijit, Thomas, Soumya R., Al Awad, Essa, Wright, Nicola A. M., Constantinescu, Cora, Le, Doan, Kamaluddeen, Majeeda
Publicado 2023

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Tela...

por Maroilley, Tatiana, Wright, Nicola A. M., Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R., Billie Au, Ping Yee, Tarailo-Graovac, Maja
Publicado 2022