Showing results (5321-5330 of 5,829) with videos related to
Sort By:
Pageof 583
Human Mutation|August 21, 2008
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell linesMerel S Ebberink, Petra A W Mooyer, Janet Koster, et al.Human Mutation|September 19, 2008
A gene conversion hotspot in the human growth hormone (GH1) gene promoterAndreas Wolf, David S Millar, Amke Caliebe, et al.Human Mutation|August 30, 2008
FOXL2 mutations and genomic rearrangements in BPESDiane Beysen, Anne De Paepe, Elfride De BaereHuman Mutation|December 6, 2013
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interfaceChristopher M Watson, Laura A Crinnion, Joanne E Morgan, et al.Human Mutation|December 11, 2013
Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residuesMiguel A Molina-Vila, Nuria Nabau-Moretó, Cristian Tornador, et al.Human Mutation|November 28, 2013
Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variantsAmanda Smith, Kym M Boycott, Olga JarinovaHuman Mutation|November 29, 2013
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IXNouran Adly, Amal Alhashem, Amer Ammari, et al.Human Mutation|October 10, 2013
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndromeAitor Delmiro, Henry Rivera, María Teresa García-Silva, et al.Human Mutation|October 12, 2013
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathyHirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, et al.Human Mutation|October 12, 2013
GALNT12 is not a major contributor of familial colorectal cancer type XNuria Seguí, Marta Pineda, Matilde Navarro, et al.Pageof 583