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Journal of Human Genetics|September 19, 2014
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approachesYu Lu, Xueya Zhou, Zhanguo Jin, et al.Journal of Human Genetics|August 8, 2014
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndromeLei Feng, Daizhan Zhou, Zhou Zhang, et al.Journal of Human Genetics|August 8, 2014
Alterations to DNA methylation and expression of CXCL14 are associated with suboptimal birth outcomesClara Y Cheong, Keefe Chng, Mei Kee Lim, et al.Journal of Human Genetics|November 1, 2013
Novel mutation in AAA domain of BCS1L causing Bjornstad syndromeSaima Siddiqi, Saadat Siddiq, Atika Mansoor, et al.Journal of Human Genetics|December 27, 2013
Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysisTerence T Sio, Aaron S Mansfield, Travis E Grotz, et al.Journal of Human Genetics|March 25, 2016
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genomeAkihide Shibata, Tatsuya Okuno, Mohammad Alinoor Rahman, et al.Journal of Human Genetics|March 25, 2016
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapyAkinori Nakamura, Noboru Fueki, Naoko Shiba, et al.Journal of Human Genetics|April 1, 2016
New native South American Y chromosome lineagesMarilza S Jota, Daniela R Lacerda, José R Sandoval, et al.Journal of Human Genetics|April 1, 2016
WDR45 mutations in three male patients with West syndromeMitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.Journal of Human Genetics|April 1, 2016
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiencyAleksander Jamsheer, Ewelina M Olech, Kazimierz Kozłowski, et al.Pageof 351