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Molecular Genetics & Genomic Medicine|October 6, 2015
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid featuresRebecca Ganetzky, Erin Finn, Atrish Bagchi, et al.Molecular Genetics & Genomic Medicine|October 6, 2015
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancerYosuke Hirotsu, Hiroshi Nakagomi, Ikuko Sakamoto, et al.Molecular Genetics & Genomic Medicine|August 7, 2015
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRDeborah L Stabley, Ashlee W Harris, Jennifer Holbrook, et al.Molecular Genetics & Genomic Medicine|August 7, 2015
Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutantsAnne Thomas, Arijit Biswas, Vytautas Ivaskevicius, et al.Molecular Genetics & Genomic Medicine|August 7, 2015
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analysesHeleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, et al.Molecular Genetics & Genomic Medicine|August 1, 2014
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityKotoka Nakamura, Francesca Fike, Sara Haghayegh, et al.Molecular Genetics & Genomic Medicine|April 12, 2016
A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effectIsabella Garagiola, Sabrina Seregni, Mimosa Mortarino, et al.Molecular Genetics & Genomic Medicine|April 12, 2016
GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patientKameel Kassab, Hadla Hariri, Lara Gharibeh, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
Targeting breast cancer outcomes-what about the primary relatives?Alison Johnston, Michael SugrueMolecular Genetics & Genomic Medicine|July 19, 2017
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patientsDaniela V Pilonetto, Noemi F Pereira, Carmem M S Bonfim, et al.Pageof 252