Showing results (2021-2030 of 5,734) with videos related to
Sort By:
Pageof 574
Human Mutation|March 17, 2010
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)Luigia De Falco, Francesca Totaro, Antonella Nai, et al.Human Mutation|March 17, 2010
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosisMariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al.Human Mutation|February 2, 2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genesTina Duelund Hjortshøj, Karen Grønskov, Alisdair R Philp, et al.Human Mutation|February 4, 2010
The Roche Cancer Genome Database (RCGDB)Jan Küntzer, Daniela Eggle, Hans-Peter Lenhof, et al.Human Mutation|February 4, 2010
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiencyMarie Zikanova, Vaclava Skopova, Ales Hnizda, et al.Human Mutation|February 4, 2010
High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysisRolf H A M Vossen, Martine van Duijn, Mohamed R Daha, et al.Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.Human Mutation|June 17, 2018
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtypeRichard T Wang, Florian Barthelemy, Ann S Martin, et al.Human Mutation|July 12, 2018
A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channelDebora Baroni, Cristiana Picco, Oscar MoranHuman Mutation|June 20, 2018
Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosisYanhan Deng, Zongzhe Li, Juan Liu, et al.Pageof 574