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Journal of Human Genetics|March 10, 2017
The microRNA expression signature of small cell lung cancer: tumor suppressors of miR-27a-5p and miR-34b-3p and their targeted oncogenesKeiko Mizuno, Hiroko Mataki, Takayuki Arai, et al.Journal of Human Genetics|February 17, 2017
Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, MexicoFuzuki Mizuno, Masahiko Kumagai, Kunihiko Kurosaki, et al.Journal of Human Genetics|December 9, 2016
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophyToshio Ikeda, Akihiko Nakahara, Rie Nagano, et al.Journal of Human Genetics|December 23, 2016
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nailsAriana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, et al.Journal of Human Genetics|December 16, 2016
Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, et al.Journal of Human Genetics|December 16, 2016
Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapyAkinori Nakamura, Naoko Shiba, Daigo Miyazaki, et al.Journal of Human Genetics|December 2, 2016
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemiaMaría L Couce, Luís Aldamiz-Echevarría, María A Bueno, et al.Journal of Human Genetics|October 28, 2016
Cryptic exon activation in SLC12A3 in Gitelman syndromeKandai Nozu, Yoshimi Nozu, Keita Nakanishi, et al.Journal of Human Genetics|February 10, 2017
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, et al.Journal of Human Genetics|January 20, 2017
Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complicationsMayumi Ueta, Hiromi Sawai, Ryosei Shingaki, et al.Pageof 351