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2,613 results
  • Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency. [Journal Article]
    Am J Hematol 2020Bianchi P, Fermo E, … Grace R
  • Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. This study reports the molecular features of 257 patients enrolled in the PKD Natural History Study. Of the 127 different pathogenic variants detected, 84 were missense and 43 non-missense, including 20 stop-gain codon, 11 affecting splicing, 5 large deletions, 4 in-frame indels, …
  • Organelle size scaling over embryonic development. [Review]
    Wiley Interdiscip Rev Dev Biol 2020; :e375Wesley CC, Mishra S, Levy DL
  • Cell division without growth results in progressive cell size reductions during early embryonic development. How do the sizes of intracellular structures and organelles scale with cell size and what are the functional implications of such scaling relationships? Model organisms, in particular Caenorhabditis elegans worms, Drosophila melanogaster flies, Xenopus laevis frogs, and Mus musculus mice, …
  • Parentage of Hydatidiform Moles. [Case Reports]
    J Forensic Sci 2020Wenk RE, Baird M, … Schelling KA
  • We were presented with the STR (short tandem repeat) profiles from two separate paternity trios. Each trio consisted of a mother, an alleged father, and products of conception (POC) that contained a hydatidiform mole but no visible fetus. In both cases, antecedent pregnancies had followed alleged sexual assaults. Mole classification and pathogenesis are described in order to explain the analyses …
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