Showing results (5461-5470 of 5,829) with videos related to

Sort By:
Pageof 583
Human Mutation|January 1, 1997
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathyV Juvonen, E Nikoskelainen, T Lamminen, et al.
Human Mutation|January 1, 1997
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletionP J Ainsworth, P K Chakraborty, R Weksberg
Human Mutation|January 1, 1997
Scanning method to identify the molecular heterogeneity of delta-globin gene especially in delta-thalassemias: detection of three novel substitutions in the promoter region of the geneM Papadakis, E Papapanagiotou, A Loutradi-Anagnostou
Human Mutation|December 25, 2007
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiencyLars Schlotawa, Robert Steinfeld, Kurt von Figura, et al.
Human Mutation|January 6, 2017
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear EntryTuomas Heikkinen, Kati Kämpjärvi, Salla Keskitalo, et al.
Human Mutation|January 4, 2017
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy CasesStéphanie S Cornelis, Nathalie M Bax, Jana Zernant, et al.
Human Mutation|April 15, 2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing eraThierry Soussi, Bernard Leroy, Peter E M Taschner
Human Mutation|May 6, 2008
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligenceSamia A Temtamy, Mona S Aglan, Maria Valencia, et al.
Human Mutation|January 18, 2008
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegiaAlessia Arnoldi, Alessandra Tonelli, Francesca Crippa, et al.
Human Mutation|February 29, 2008
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathyDengbing Yao, Hiroshi Mizuguchi, Miyoko Yamaguchi, et al.
Pageof 583