Results 131 to 140 of about 9,183 (205)

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature. [PDF]

Front Med (Lausanne)
Gorodilova D, Kenis V, Rustamov K, Akimova D, Skoblov M, Merkuryeva E, Morgul A, Grigorieva A, Andreeva L, Zabnenkova V, Bulakh M, Chistol D, Raimkhodjaeva N, Lavrov A, Hegay T, Aripova T, Kutsev S, Markova T.   +17 more
europepmc   +1 more source

RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics. [PDF]

Hum Mutat
Ren J, Dai C, Meng F, Zhang P, Xie C, Xiao W, He W, Yuan S, Li X, Zhang Q, Tang W, Hu L, Chen Z, Lu G, Du J, Zeng S, Lin G.   +16 more
europepmc   +1 more source

SNRPD2-mediated regulation of DDX39B splicing promotes endometrial cancer progression by suppressing the activation of CTSC cryptic exons. [PDF]

Cell Death Dis
Li Y, Chen Z, Liu Y, Gao Y, Pu Y, Gao Q, Gao F, Yang N, Li P.   +8 more
europepmc   +1 more source

An Actively Homing Insertion Element in a Phage Methylase Contains a Hidden HNH Endonuclease. [PDF]

Genes (Basel)
Arsenault D, Gosselin SP, Gogarten JP.
europepmc   +1 more source

日・韓・中における食文化の継承と創出 (国際学研究フォーラム講演録1: 2015年10月30日) [PDF]

, 2017
Yoshiko Nakano, 中野 嘉子
core   +1 more source

Prevalence, Characterization and Genetic Diversity of Listeria monocytogenes in Ready-to-Eat Raw Salmon (Salmo salar) and Trout (Oncorhynchus mykiss) Products. [PDF]

Foods
Gong Y, Yao L, Qu M, Li F, Guo Y, Li N, Zhu W, Wang L, Wang P, Jiang Y.   +9 more
europepmc   +1 more source

Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]

Gastroenterol Rep (Oxf)
Liu AX, Liu KH, Guo RY, Ying JM, Zou SM, Dong L.   +5 more
europepmc   +1 more source

Novel <i>VRK1</i> Variants and a Founder Effect in Axonal Polyneuropathy. [PDF]

Neurol Genet
Xu K, Zeng S, Li X, Li Z, Liu Y, Wang M, Xie Y, Liu L, Cao W, Huang S, Zhao H, Tang B, Zhang R.   +12 more
europepmc   +1 more source

Expression spectrum of TE-driven transcripts in human adult tissues. [PDF]

Genome Biol
Miao B, Luo X, Ademovic A, Yang Y, Wu TP, Zhang BA.   +5 more
europepmc   +1 more source

Assessing allergenic potential, exposure and risk of <i>Anisakis</i> spp. [PDF]

EFSA J
Majstorović J, Herfurth UM, Mladineo I, Winkel M.   +3 more
europepmc   +1 more source