Showing results (451-460 of 4,750) with videos related to

Sort By:
Pageof 475
Orphanet Journal of Rare Diseases|July 31, 2013
Comprehensive characterization of malignant phyllodes tumor by whole genomic and proteomic analysis: biological implications for targeted therapy opportunitiesDenis L Fontes Jardim, Anthony Conley, Vivek Subbiah
Orphanet Journal of Rare Diseases|September 6, 2013
Glanders: an overview of infection in humansKristopher E Van Zandt, Marek T Greer, H Carl Gelhaus
Orphanet Journal of Rare Diseases|August 8, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathiesKimberly Amburgey, Angela Bailey, Jean H Hwang, et al.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, et al.
Orphanet Journal of Rare Diseases|September 19, 2013
Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf areaMohamad H Qari, Yasser Wali, Muneer H Albagshi, et al.
Orphanet Journal of Rare Diseases|August 20, 2013
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaMaria Sandbacka, Hannele Laivuori, Érika Freitas, et al.
Orphanet Journal of Rare Diseases|July 11, 2013
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2Jiadi Wen, Fátima Lopes, Gabriela Soares, et al.
Orphanet Journal of Rare Diseases|June 8, 2013
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new casesMajid Alfadhel, Makki Almuntashri, Raafat H Jadah, et al.
Orphanet Journal of Rare Diseases|June 22, 2013
Health-related quality of life and its determinants in children with a congenital diaphragmatic herniaFabrice Michel, Karine Baumstarck, Agathe Gosselin, et al.
Orphanet Journal of Rare Diseases|June 22, 2013
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapySean N Prater, Trusha T Patel, Anne F Buckley, et al.
Pageof 475