Showing results (4141-4150 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|April 23, 2002
Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathyStephan Waldmüller, Petra Freund, Simon Mauch, et al.Human Mutation|May 18, 2017
Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnelDanya F Vears, Karine Sénécal, Pascal BorryHuman Mutation|July 18, 2018
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosaHassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, et al.Human Mutation|July 25, 2018
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndromeYan Zhou, Nils Koelling, Aimée L Fenwick, et al.Human Mutation|July 29, 2018
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypesJorge Oliveira, Angela Gruber, Márcio Cardoso, et al.Human Mutation|July 17, 2018
Missense mutations have unexpected consequences: The McArdle disease paradigmInés García-Consuegra, Sara Asensio-Peña, Alfonsina Ballester-Lopez, et al.Human Mutation|July 18, 2018
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung diseaseFahad Zadjali, Aida Al-Yahyaee, Maryam Al-Nabhani, et al.Human Mutation|November 16, 2005
Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancerXuemei Zhang, Xiaoping Miao, Yongli Guo, et al.Human Mutation|December 2, 2005
Functional polymorphism in ALOX15 results in increased allele-specific transcription in macrophages through binding of the transcription factor SPI1Jonas Wittwer, Jacqueline Marti-Jaun, Martin HersbergerHuman Mutation|January 1, 1997
Oligonucleotide micro-arrays for identification of unknown mutations: how far from reality?F GinotPageof 583