91
TITLE: Silent exonic substitution in POMGnT1 promotes exon skipping in a CMD patient  Full Text
AUTHORS: Oliveira, J; Soares Silva, I; Goncalves, A; Fokkema, I; Cabral, A; Diogo, L; Galan, L; Guimaraes, A; Fineza, I; den Durmen, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 17, ISSUE: 9-10
INDEXED IN: WOS CrossRef
IN MY: ORCID
92
TITLE: Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome  Full Text
AUTHORS: Elisio Costa ; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Goncalves; Luisa Diogo; Rosario Santos;
PUBLISHED: 2007, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 39, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID
93
TITLE: Molecular study of Portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome  Full Text
AUTHORS: Costa, E ; Oliveira, J; Vieira, E; Duque, F; Garcia, P; Goncalves, I; Diego, L; Barbot, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th Congress of the European-Hematology-Association in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92
INDEXED IN: WOS Handle
Page 10 of 10. Total results: 94.