Results 21 to 30 of about 247,724 (50)

Accurate <i>RET</i> Fusion Detection in Solid Tumors Using RNA Sequencing Coverage Imbalance Analysis. [PDF]

Int J Mol Sci
Gaziev I, Khristichenko A, Luppov D, Suntsova M, Bondarenko E, Reinberg M, Matrosova A, Khilal N, Sorokin M, Sekacheva M, Poddubskaya E, Buzdin A, Zakharova G.   +12 more
europepmc   +1 more source

Detection of Expressed <i>Otx</i> mRNA Isoforms in Sea Urchins by Mapping NGS Reads to Single-Gene/Transcript Sequences. [PDF]

Biology (Basel)
Maiorova MA, Kipryushina YO, Yakovlev KV.   +2 more
europepmc   +1 more source

Longer internal exons tend to have more tandem repeats and more frequently experience insertions and deletions. [PDF]

Life Sci Alliance
Homma K, Anbo H, Ota M, Fukuchi S.
europepmc   +1 more source

Identification and analysis of a novel A allele with a c.565A > G variant on the ABO*A1.02 allele leading to subtype A: A case report. [PDF]

Medicine (Baltimore)
Lu W, Mo C, Zhong J, Zhang Y, Li L.
europepmc   +1 more source

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing. [PDF]

Mol Cytogenet
Blavier G, Lecoquierre F, Guerrot AM, Hélas GJ, Rondeau S, Boland A, Deleuze JF, Nicolas G, Chambon P, Cassinari K.   +9 more
europepmc   +1 more source

Performance and clinical utility of two targeted multigene panels for GIST molecular characterization. [PDF]

Sci Rep
Nannini M, Astolfi A, Maloberti T, Nigro MC, Gozzellino L, Costa A, Pirini MG, De Leo A, Grillini M, Altimari A, Del Gaudio M, Vincenzi B, Fumagalli E, Brunello A, Grignani G, Aliberti S, Ricci AD, Gelsomino F, Setola E, Tallini G, de Biase D, Pantaleo MA.   +21 more
europepmc   +1 more source

A Case of Lung Adenocarcinoma With Concurrent EGFR Mutation and ALK Fusion Combined With Literature Review. [PDF]

Clin Case Rep
Chen Y, Qi F, Zeng Y, Tan J, Hu M, Zhang H, Zhang T.   +6 more
europepmc   +1 more source

A Novel <i>VPS13A</i> Deletion in <i>VPS13A</i> Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary. [PDF]

Int J Mol Sci
Perrone B, Mosca V, Pecoraro M, Ruffo P, Giudice ED, Leon A, Maino M, La Bella V, Spataro R, Conforti FL.   +9 more
europepmc   +1 more source

Dilated cardiomyopathy-associated RNA-binding motif protein 20 regulates long pre-mRNAs in neurons. [PDF]

Elife
Di Bartolomei G, Ortiz R, Schreiner D, Falkner S, Creemers EEJM, Scheiffele P.   +5 more
europepmc   +1 more source