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Human Mutation|May 18, 2017
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variantsLipika R Pal, Kunal Kundu, Yizhou Yin, et al.Human Mutation|May 18, 2017
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn diseaseLipika R Pal, Kunal Kundu, Yizhou Yin, et al.Human Mutation|July 6, 2017
New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing lossWenjun Xia, Jiongjiong Hu, Fei Liu, et al.Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.Human Mutation|December 6, 2005
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assaysSilvia Dominissini, Emanuele Buratti, Bruno Bembi, et al.Human Mutation|March 17, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseasesTakashi Kawamura, Masafumi Ohtsubo, Susumu Mitsuyama, et al.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.Pageof 577