1
TÍTULO: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
AUTORES: Pranesh K Chakraborty; Klaus Schmitz Abe; Erin K Kennedy; Hapsatou Mamady; Turaya Naas; Danielle Durie; Dean R Campagna; Ashley Lau; Anoop K Sendamarai; Daniel H Wiseman; Alison May; Stephen Jolles; Philip Connor; Colin Powell; Matthew M Heeney; Patricia Jane Giardina; Robert J Klaassen; Caroline Kannengiesser; Isabelle Thuret; Alexis A Thompson; Laura Marques; Stephen Hughes; Denise K Bonney; Sylvia S Bottomley; Robert F Wynn; Ronald M Laxer; Caterina P Minniti; John Moppett; Victoria Bordon; Michael Geraghty; Paul B M Joyce; Kyriacos Markianos; Adam D Rudner; Martin Holcik; Mark D Fleming; ...Mais
PUBLICAÇÃO: 2014, FONTE: BLOOD, VOLUME: 124, NÚMERO: 18
INDEXADO EM: Scopus WOS CrossRef
2
TÍTULO: A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
AUTORES: Daniel H Wiseman; Alison May; Stephen Jolles; Philip Connor; Colin Powell; Matthew M Heeney; Patricia J Giardina; Robert J Klaassen; Pranesh Chakraborty; Michael T Geraghty; Nathalie Major Cook; Caroline Kannengiesser; Isabelle Thuret; Alexis A Thompson; Laura Marques; Stephen Hughes; Denise K Bonney; Sylvia S Bottomley; Mark D Fleming; Robert F Wynn;
PUBLICAÇÃO: 2013, FONTE: BLOOD, VOLUME: 122, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef