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Journal of Human Genetics|April 6, 2026
SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohortGui-He Li, Li-Wen Wu, Jing Li, et al.Journal of Human Genetics|May 18, 2026
Further delineation of the phenotype and genotype in a newly identified PAN2-related disorderErdem Kındış, Elif Eviz, Serdar CeylanerJournal of Human Genetics|May 18, 2026
Nanopore third-generation sequencing for the diagnosis of rare hemoglobinopathies in Southern ChinaFen Lin, Shi-Xiong Yang, Yi-Yuan Ge, et al.Journal of Human Genetics|April 24, 2026
Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive reviewŞule Altıner, Ezgi Gökpınar İli, Ahmet Karer Yurtdaş, et al.Journal of Human Genetics|September 11, 2023
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycleCarmela Fusco, Grazia Nardella, Silvia Morlino, et al.Journal of Human Genetics|May 29, 2002
Variability of the human aryl hydrocarbon receptor nuclear translocator (ARNT) geneJulia Scheel, Ragna Hussong, Dieter Schrenk, et al.Journal of Human Genetics|September 29, 2007
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndromeBiagio Didona, Andrea Codispoti, Enrico Bertini, et al.Journal of Human Genetics|June 26, 2008
Grouping preprocess to accurately extend application of EM algorithm to haplotype inferenceHiroyuki Shindo, Hiroshi Chigira, Junji Tanaka, et al.Journal of Human Genetics|November 29, 2005
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsySubramaniam Ganesh, Rajat Puri, Shweta Singh, et al.Journal of Human Genetics|December 16, 2006
A novel intronic mutation that may affect genotyping result of CYP2C8 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) is strongly associated with CYP2C8*3 in a South American populationHeydy Varinia Bravo-Villalta, Koujirou Yamamoto, Katsunori Nakamura, et al.Pageof 351