Results 101 to 110 of about 2,969 (179)

Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies. [PDF]

open access: yesHGG Adv
Capasso D   +14 more
europepmc   +1 more source

Small molecule splicing modulators that disrupt O-GlcNAc homeostasis. [PDF]

open access: yesNat Commun
Cheng SS   +10 more
europepmc   +1 more source

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

open access: yesJ Neurodev Disord
Hourani SM   +4 more
europepmc   +1 more source

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

open access: yesFront Med (Lausanne)
Gorodilova D   +17 more
europepmc   +1 more source

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