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Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.Human Mutation|April 5, 2012
MUTYH gene expression and alternative splicing in controls and polyposis patientsGuido Plotz, Markus Casper, Jochen Raedle, et al.Human Mutation|November 22, 2011
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCDJane S Lucas, Elizabeth C Adam, Patricia M Goggin, et al.Human Mutation|November 30, 2011
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1Angelica Nordin, Elin Larsson, Monica HolmbergHuman Mutation|November 11, 2014
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsAlberto Acedo, Cristina Hernández-Moro, Álvaro Curiel-García, et al.Human Mutation|October 24, 2014
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathyFabian Baertling, Mariel A M van den Brand, Jozef L Hertecant, et al.Human Mutation|October 22, 2014
Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99Jiangxia Li, Xiaohan Zhao, Qian Xin, et al.Human Mutation|October 31, 2014
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencingCarl Mårten Lindqvist, Jessica Nordlund, Diana Ekman, et al.Human Mutation|November 26, 2013
Characterization of SLC26A9 in patients with CF-like lung diseaseNaziha Bakouh, Thierry Bienvenu, Annick Thomas, et al.Pageof 574