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Human Mutation|September 15, 2006
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia ANadja Bogdanova, Arseni Markoff, Roswith Eisert, et al.Human Mutation|August 19, 2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, et al.Human Mutation|August 19, 2006
CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH geneB C Murphy, C R Scriver, S M SinghHuman Mutation|August 19, 2006
Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson diseaseYonghong Li, Steven Schrodi, Charles Rowland, et al.Human Mutation|July 11, 2006
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing lossLut Van Laer, Per-Inge Carlsson, Natacha Ottschytsch, et al.Human Mutation|June 10, 2020
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNCHeike Kölbel, Andreas Roos, Peter F M van der Ven, et al.Human Mutation|June 13, 2020
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year periodNicole Weisschuh, Carolin D Obermaier, Florian Battke, et al.Human Mutation|May 11, 2021
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish typeSean Mullany, Emmanuelle Souzeau, Sonja Klebe, et al.Human Mutation|June 25, 2020
Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markersArwin Ralf, Delano Lubach, Nefeli Kousouri, et al.Human Mutation|February 5, 1998
Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sampleE J van Rensburg, S Engelbrecht, W F van Heerden, et al.Pageof 578