Results 191 to 197 of about 3,834 (197)

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations

European Journal of Human Genetics, 2004
Stefan J White, E Bakker, White Stefan J   +2 more
exaly  

Mutations in the EXT1 and EXT2 genes in patients with multiple osteochondromas from Spain

Bone, 2011
Sarrion, P, Sangorrin, A, Urreizti, R, Artuch, R, Martorell, L, Armstrong, J, Anton, J, Torner, F, Vilaseca, MA, Balcells, S, Grinberg, D   +10 more
openaire   +2 more sources

Conditional Ablation of the Heparan Sulfate-synthesizing Enzyme Ext1 Leads to Dysregulation of Bone Morphogenic Protein Signaling and Severe Skeletal Defects

Journal of Biological Chemistry, 2010
Yoshihiro Matsumoto, Kazu Matsumoto, Fumitoshi Irie   +2 more
exaly  

THREE SIBLINGS WITH EXT1-CDG

2011
OKUR, ARZU, SARAÇ, AVNİ, WUYTS, WIM, HUL, ELS VAN, HASANOĞLU, ALEV, KASAPKARA, ÇİĞDEM SEHER, EZGÜ, FATİH SÜHEYL, OKUR, İLYAS, KÜÇÜKÇONGAR, AYNUR, TÜMER, LEYLA   +9 more
openaire   +3 more sources

Ext1 localement analytique et compatibilité local-global

American Journal of Mathematics, 2019
openaire   +1 more source

Generation of Ext1 Gene-Edited Mice Model Via Dual sgRNAs/Cas9 System and Phenotypic Analyses

Molecular Biotechnology
Honghao Yu, Zhou Can, Yu Honghao
exaly  

EXT1 and Its Methylation Involved in the Progression of Uterine Corpus Endometrial Carcinoma Pathogenesis

Applied Biochemistry and Biotechnology
Ha Chunfang
exaly