Results 121 to 130 of about 2,287 (160)

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily. [PDF]

Genes (Basel)
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F.   +12 more
europepmc   +1 more source

FlyDEGdb knowledge base on differentially expressed genes of Drosophila melanogaster, a model object in biomedicine. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Podkolodnaya OA, Deryuzhenko MA, Tverdokhleb NN, Zolotareva KA, Makovka YV, Podkolodny NL, Suslov VV, Chadaeva IV, Fedoseeva LA, Seryapina AA, Oshchepkov DY, Bogomolov AG, Kondratyuk EY, Redina OE, Markel AL, Gruntenko NE, Ponomarenko MP.   +16 more
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Early diagnostic biomarkers for acute myocardial infarction unveiled by metabolomics, Mendelian randomization, and machine learning. [PDF]

Mol Biomed
Fan H, Fu X, Guo Q, Jia F, Wei XY, Liu J, Zhang N, Zhu C, Shi J, Zhang L, Li JC.   +10 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 more
europepmc   +1 more source

Identification of neutrophil extracellular trap-related biomarkers in ulcerative colitis based on bioinformatics and machine learning. [PDF]

Front Genet
Li J, Liu Y, Sun Z, Zeng S, Zheng C.
europepmc   +1 more source

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report. [PDF]

Cureus
Ansari U, Dua A, Aneja E, Amani N, Muttalib Z, Lui F, Chima BS.   +6 more
europepmc   +1 more source

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants. [PDF]

Front Mol Biosci
Pushkov A, Chudakova D, Zhanin I, Nikitin S, Basargina E, Kuzenkova L, Andreeva D, Vasil'eva M, Vasichkin S, Gabitova A, Gaisina E, Saifullina E, Gamzatova A, Gilvanova O, Dudin V, Ergina O, Kurbatov S, Noskova E, Osipova E, Tihonova O, Fedotova E, Nuzhny E, Chernikova V, Yamshchikova A, Kyzina L, Irinina N, Rohlenko O, Kutkova Y, Popkova N, Ahunova A, Alexeeva A, Mazanova N, Sdvigova N, Gandaeva L, Zharova O, Podkletnova T, Sukhozhenko A, Rusakova A, Demianov D, Pakhomov A, Fisenko A, Savostyanov K.   +41 more
europepmc   +1 more source

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population. [PDF]

J Korean Med Sci
Kim SH, Choi Y, Choi YC, Kim SW, Shin HY, Park HJ.   +5 more
europepmc   +1 more source