Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome

por Stubbins, Ryan J., Cherniawsky, Hannah, Chen, Luke Y.C., Nevill, Thomas J.
Publicado 2022

Innovations en génomique pour les maladies non diagnostiquées: le syndrome VEXAS (vacuoles intracytoplasmiques dans les progéniteurs médullaires, E1 ubiquitine ligase, liée à l’X,...

por Stubbins, Ryan J., Cherniawsky, Hannah, Chen, Luke Y. C., Nevill, Thomas J.
Publicado 2022

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)

por Stubbins, Ryan J., McGinnis, Eric, Johal, Bhupinder, Chen, Luke YC, Wilson, Lorena, Cardona, Daniela Ospina, Nevill, Thomas J.
Publicado 2021

High transferrin saturation predicts inferior clinical outcomes in patients with myelodysplastic syndromes

por Teichman, Jennifer, Geddes, Michelle, Zhu, Nancy, Keating, Mary-Margaret, Sabloff, Mitchell, Christou, Grace, Leber, Brian, Khalaf, Dina, St-Hilaire, Eve, Finn, Nicholas, Shamy, April, Yee, Karen W.L., Storring, John M., Nevill, Thomas J., Delage, Robert, Elemary, Mohamed, Banerji, Versha, Houston, Brett, Mozessohn, Lee, Chodirker, Lisa, Zhang, Liying, Siddiqui, Mohammed, Parmentier, Anne, Leitch, Heather A., Buckstein, Rena J.
Publicado 2022