Showing results (2531-2540 of 5,747) with videos related to
Sort By:
Pageof 575
Human Mutation|February 5, 2013
Heterozygous genetic variations of FOXP3 in Xp11.23 elevate breast cancer risk in Chinese population via skewed X-chromosome inactivationJian Zheng, Jieqiong Deng, Lan Jiang, et al.Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.Human Mutation|February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)Yu Sun, Rowida Almomani, Guido J Breedveld, et al.Human Mutation|July 22, 2014
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteinsMarisa I S Mendes, Ana Sofia Santos, Desirée E C Smith, et al.Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.Human Mutation|July 22, 2014
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndromeMonika Ołdak, Aneta Ścieżyńska, Wojciech Młynarski, et al.Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.Human Mutation|July 31, 2014
A functional SNP catalog of overlapping miRNA-binding sites in genes implicated in prion disease and other neurodegenerative disordersReuben Saba, Sarah J Medina, Stephanie A BoothHuman Mutation|March 23, 2013
Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanningBartłomiej Masojć, Bohdan Górski, Thierry van de Wetering, et al.Human Mutation|December 5, 2013
The ZZ domain of dystrophin in DMD: making sense of missense mutationsAdeline Vulin, Nicolas Wein, Dana M Strandjord, et al.Pageof 575