Results 101 to 110 of about 1,505 (151)

Does randomization matter in rare disease clinical trials. [PDF]

PLoS One
Wied S, Razsolkov DK, Heussen N, Hilgers RD.   +3 more
europepmc   +1 more source

Disease progression and economic burden of duchenne muscular dystrophy: A retrospective study using Swedish register data. [PDF]

J Neuromuscul Dis
Sejersen T, Kroksmark AK, Törnblom A, Toghanian S, Ortsäter G, Ekström AB.   +5 more
europepmc   +1 more source

Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing. [PDF]

Pharmgenomics Pers Med
Chen Q, Zhang W, Zha L.
europepmc   +1 more source

Serum biomarkers in Duchenne muscular dystrophy: a leap toward precision diagnostics. [PDF]

Eur J Transl Myol
Matovu D.
europepmc   +1 more source

From the Microscope to the Genome: A New Era in the Molecular Genetics of Epidermolysis Bullosa. [PDF]

Int J Mol Sci
Tsvetkova M, Dimitrova T, Yaneva G.
europepmc   +1 more source

Turning premature stop codons into therapeutic opportunities. [PDF]

Mol Ther Nucleic Acids
Williamson J, Jacków-Malinowska J.
europepmc   +1 more source

Small molecule BLVRB redox inhibitor promotes megakaryocytopoiesis and stress thrombopoiesis in vivo. [PDF]

Nat Commun
Nesbitt NM, Araldi GL, Pennacchia L, Marchenko N, Assar Z, Muzzarelli KM, Thekke Veedu RR, Medel-Lacruz B, Lee E, Eisenmesser EZ, Kreitler DF, Bahou WF.   +11 more
europepmc   +1 more source

A Unified Platform for Direct Alkynylation from Alcohols via Deoxygenative Metallaphotoredox Catalysis. [PDF]

J Am Chem Soc
Li YH, MacMillan DWC.
europepmc   +1 more source

RiboScreen^TM Technology Delivers Small-Molecule Ribodrugs to Convert Ribosomal Proteins into Molecular Valves for Tailored Protein Production Levels in Rare and Prevalent Disease ^†. [PDF]

Biomedicines
Edobor G, Huber R, Reiter C, Gercke H, Kaefer N, Kronsteiner E, Wimmer B, Wimmer M, Karl T, Rinnerthaler M, Krauß J, Krobath H, Mohr T, Gerner C, von Hagen J, Müller N, Hintner H, Liemberger B, Koller U, Bauer JW, Temaj G, Breitenbach-Koller H.   +21 more
europepmc   +1 more source