Results 131 to 140 of about 259,425 (216)

Incidental finding of a <i>DMD</i> exons 48-55 deletion during prenatal diagnosis. [PDF]

open access: yesFront Pediatr
Zhang M   +11 more
europepmc   +1 more source

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders. [PDF]

open access: yesBiomedicines
Vinci M   +10 more
europepmc   +1 more source

Intron-exon organization and chromosomal localization of the human TIA-1 gene. [PDF]

open access: bronze, 1994
Atsushi Kawakami   +6 more
openalex   +1 more source

Comprehensive analysis of splicing variants in corneal endothelial cells of patients with Fuchs endothelial corneal dystrophy. [PDF]

open access: yesSci Rep
Yuasa T   +8 more
europepmc   +1 more source

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