Results 81 to 90 of about 2,516,635 (116)

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review. [PDF]

BMC Pediatr
Bardakov SN, Emelin AM, Nikitin SS, Suslov VМ, Dmitrochenko IV, Kovalevskaya IS, Korzun PR, Yakovlev IA, Isaev АА, Deev RV.   +9 more
europepmc   +1 more source

Molecular characterization of a new R1925X point mutation mouse model for dysferlinopathy. [PDF]

Genes Dis
Bouchard C, Despax L, Rousseau J, Tremblay JP.   +3 more
europepmc   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

Methylation Landscapes of Cartilage in Hip Osteoarthritis. [PDF]

Genet Res (Camb)
Jiang R, Wang M, Tan G, Lv J, Jin X, Liu Y, Wu R, Shi D.   +7 more
europepmc   +1 more source

Single-cell transcriptomics of X-ray irradiated <i>Drosophila</i> wing discs reveals heterogeneity related to cell-cycle status and cell location. [PDF]

Elife
Cruz J, Sun WY, Verbeke A, Hariharan IK.
europepmc   +1 more source

Impaired myogenesis in limb girdle muscular dystrophy type 2B. [PDF]

Sci Rep
Souza LS, Ishiba R, Ribeiro-Junior AF, Zogbi IA, Bouragba D, Bigot A, Mouly V, Vainzof M.   +7 more
europepmc   +1 more source

Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers. [PDF]

Respir Res
Nyberg F, Lundmark P, Blomberg A, Dekkers K, Egesten A, Eriksson Ström J, Gigante B, Gummesson A, Gunnarsson C, Janson C, Malinovschi A, Olin AC, Orho-Melander M, Persson HL, Pesonen I, Sköld M, Söderberg S, Tanash H, Vanfleteren LEGW, Fall T.   +19 more
europepmc   +1 more source

Integrated Functional and scRNA-Seq Analyses Reveal Convergence of M-CSF- and GM-CSF-Derived Macrophages Following IL-27 Polarization. [PDF]

Cells
Imamichi T, Yang J, Chen Q, Kariyawasam U, Marquez M, Higgins J, Metz J, Sharma HN, Baseler MW, Sui H.   +9 more
europepmc   +1 more source

Genetic evidence linking circadian rhythm genes and hypertension: A two-sample Mendelian randomization study. [PDF]

J Int Med Res
Wang LJ, Leng YQ, Wang WZ, Sun JC.
europepmc   +1 more source

Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents. [PDF]

Neuropathol Appl Neurobiol
D'Este G, Cox D, Maistrello L, Emmons SS, Gaitonde P, Dastur R, Barresi R.   +6 more
europepmc   +1 more source